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NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg) AND Biotinidase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2023
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:
RCV003029786.4

Allele description [Variation Report for NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)]

NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
HGVS:
  • NC_000003.12:g.15645093G>C
  • NG_008019.2:g.48742G>C
  • NG_008019.3:g.48743G>C
  • NM_000060.4:c.1237G>C
  • NM_001281723.4:c.1177G>C
  • NM_001281724.3:c.1177G>C
  • NM_001281725.3:c.1177G>C
  • NM_001323582.2:c.1177G>C
  • NM_001370658.1:c.1177G>CMANE SELECT
  • NM_001370752.1:c.1015+162G>C
  • NM_001370753.1:c.399+3036G>C
  • NM_001407364.1:c.1177G>C
  • NM_001407365.1:c.1177G>C
  • NM_001407366.1:c.1177G>C
  • NM_001407367.1:c.1177G>C
  • NM_001407368.1:c.1177G>C
  • NM_001407369.1:c.1177G>C
  • NM_001407370.1:c.1177G>C
  • NM_001407371.1:c.1177G>C
  • NM_001407372.1:c.1177G>C
  • NM_001407373.1:c.1177G>C
  • NM_001407374.1:c.1177G>C
  • NM_001407375.1:c.1177G>C
  • NM_001407376.1:c.1177G>C
  • NM_001407377.1:c.1177G>C
  • NM_001407378.1:c.1177G>C
  • NP_000051.1:p.Gly413Arg
  • NP_001268652.2:p.Gly393Arg
  • NP_001268652.2:p.Gly393Arg
  • NP_001268653.2:p.Gly393Arg
  • NP_001268654.1:p.Gly393Arg
  • NP_001268654.1:p.Gly393Arg
  • NP_001310511.1:p.Gly393Arg
  • NP_001310511.1:p.Gly393Arg
  • NP_001357587.1:p.Gly393Arg
  • NP_001394293.1:p.Gly393Arg
  • NP_001394294.1:p.Gly393Arg
  • NP_001394295.1:p.Gly393Arg
  • NP_001394296.1:p.Gly393Arg
  • NP_001394297.1:p.Gly393Arg
  • NP_001394298.1:p.Gly393Arg
  • NP_001394299.1:p.Gly393Arg
  • NP_001394300.1:p.Gly393Arg
  • NP_001394301.1:p.Gly393Arg
  • NP_001394302.1:p.Gly393Arg
  • NP_001394303.1:p.Gly393Arg
  • NP_001394304.1:p.Gly393Arg
  • NP_001394305.1:p.Gly393Arg
  • NP_001394306.1:p.Gly393Arg
  • NP_001394307.1:p.Gly393Arg
  • NC_000003.11:g.15686600G>C
  • NM_001281723.3:c.1177G>C
  • NM_001281725.2:c.1177G>C
  • NM_001323582.1:c.1177G>C
Protein change:
G393R
Molecular consequence:
  • NM_001370752.1:c.1015+162G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3036G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1237G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1177G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Biotinidase deficiency
Synonyms:
BTD deficiency; Late-onset biotin-responsive multiple carboxylase deficiency; Biotin deficiency
Identifiers:
MONDO: MONDO:0009665; MedGen: C0220754; Orphanet: 79241; OMIM: 253260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003332490Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003332490.3

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

Description

This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 413 of the BTD protein (p.Gly413Arg). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with biochemical features of biotinidase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 2113926). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BTD protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 25, 2025