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NM_001370658.1(BTD):c.176G>A (p.Arg59His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003993755.2

Allele description

NM_001370658.1(BTD):c.176G>A (p.Arg59His)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
Other names:
R79H
HGVS:
  • NC_000003.12:g.15635615G>A
  • NG_008019.2:g.39264G>A
  • NM_000060.4:c.236G>A
  • NM_000060.4:c.236G>A
  • NM_001281723.4:c.176G>A
  • NM_001281724.3:c.176G>A
  • NM_001281725.3:c.176G>A
  • NM_001281726.3:c.176G>A
  • NM_001323582.2:c.176G>A
  • NM_001370658.1:c.176G>AMANE SELECT
  • NM_001370752.1:c.176G>A
  • NM_001370753.1:c.176G>A
  • NM_001407364.1:c.176G>A
  • NM_001407365.1:c.176G>A
  • NM_001407366.1:c.176G>A
  • NM_001407367.1:c.176G>A
  • NM_001407368.1:c.176G>A
  • NM_001407369.1:c.176G>A
  • NM_001407370.1:c.176G>A
  • NM_001407371.1:c.176G>A
  • NM_001407372.1:c.176G>A
  • NM_001407373.1:c.176G>A
  • NM_001407374.1:c.176G>A
  • NM_001407375.1:c.176G>A
  • NM_001407376.1:c.176G>A
  • NM_001407377.1:c.176G>A
  • NM_001407378.1:c.176G>A
  • NM_001407379.1:c.176G>A
  • NM_001407380.1:c.176G>A
  • NM_001407381.1:c.176G>A
  • NM_001407382.1:c.176G>A
  • NM_001407383.1:c.176G>A
  • NM_001407384.1:c.176G>A
  • NM_001407386.1:c.176G>A
  • NM_001407388.1:c.176G>A
  • NM_001407390.1:c.176G>A
  • NM_001407392.1:c.176G>A
  • NM_001407394.1:c.176G>A
  • NM_001407395.1:c.176G>A
  • NM_001407396.1:c.176G>A
  • NM_001407397.1:c.176G>A
  • NM_001407398.1:c.176G>A
  • NM_001407399.1:c.176G>A
  • NM_001407400.1:c.176G>A
  • NM_001407401.1:c.176G>A
  • NP_000051.1:p.Arg79His
  • NP_001268652.2:p.Arg59His
  • NP_001268652.2:p.Arg59His
  • NP_001268653.2:p.Arg59His
  • NP_001268654.1:p.Arg59His
  • NP_001268654.1:p.Arg59His
  • NP_001268655.2:p.Arg59His
  • NP_001268655.2:p.Arg59His
  • NP_001310511.1:p.Arg59His
  • NP_001310511.1:p.Arg59His
  • NP_001357587.1:p.Arg59His
  • NP_001357681.1:p.Arg59His
  • NP_001357682.1:p.Arg59His
  • NP_001394293.1:p.Arg59His
  • NP_001394294.1:p.Arg59His
  • NP_001394295.1:p.Arg59His
  • NP_001394296.1:p.Arg59His
  • NP_001394297.1:p.Arg59His
  • NP_001394298.1:p.Arg59His
  • NP_001394299.1:p.Arg59His
  • NP_001394300.1:p.Arg59His
  • NP_001394301.1:p.Arg59His
  • NP_001394302.1:p.Arg59His
  • NP_001394303.1:p.Arg59His
  • NP_001394304.1:p.Arg59His
  • NP_001394305.1:p.Arg59His
  • NP_001394306.1:p.Arg59His
  • NP_001394307.1:p.Arg59His
  • NP_001394308.1:p.Arg59His
  • NP_001394309.1:p.Arg59His
  • NP_001394310.1:p.Arg59His
  • NP_001394311.1:p.Arg59His
  • NP_001394312.1:p.Arg59His
  • NP_001394313.1:p.Arg59His
  • NP_001394315.1:p.Arg59His
  • NP_001394317.1:p.Arg59His
  • NP_001394319.1:p.Arg59His
  • NP_001394321.1:p.Arg59His
  • NP_001394323.1:p.Arg59His
  • NP_001394324.1:p.Arg59His
  • NP_001394325.1:p.Arg59His
  • NP_001394326.1:p.Arg59His
  • NP_001394327.1:p.Arg59His
  • NP_001394328.1:p.Arg59His
  • NP_001394329.1:p.Arg59His
  • NP_001394330.1:p.Arg59His
  • NC_000003.11:g.15677122G>A
  • NG_008019.1:g.38868G>A
  • NM_001281723.3:c.176G>A
  • NM_001281725.2:c.176G>A
  • NM_001281726.2:c.176G>A
  • NM_001323582.1:c.176G>A
  • NM_001370658.1:c.176G>A
Protein change:
R59H
Links:
dbSNP: rs397514343
Molecular consequence:
  • NM_000060.4:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281726.3:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370752.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370753.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407379.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407380.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407381.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407382.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407383.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407384.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407386.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407388.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407390.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407392.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407394.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407395.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407396.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407397.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407398.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407399.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407400.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407401.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004813838Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 12, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.

László A, Schuler EA, Sallay E, Endreffy E, Somogyi C, Várkonyi A, Havass Z, Jansen KP, Wolf B.

J Inherit Metab Dis. 2003;26(7):693-8.

PubMed [citation]
PMID:
14707518

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004813838.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: BTD c.176G>A (p.Arg59His) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251394 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.176G>A has been reported in the literature in at least one compound heterozygous individual affected with Biotinidase Deficiency (Laszlo_2003). These data do not allow any conclusion about variant significance. Other variants at the Arg59 residue have been reported as associated with disease (p.Arg59Cys), suggesting that this codon is functionally important. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 38567). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2025

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