NM_001370658.1(BTD):c.1021T>G (p.Phe341Val) AND Biotinidase deficiency

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001251432.1

Allele description [Variation Report for NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)]

NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)
Other names:
F361V
HGVS:
  • NC_000003.12:g.15644937T>G
  • NG_008019.1:g.48190T>G
  • NG_008019.2:g.48586T>G
  • NM_000060.4:c.1081T>G
  • NM_001281723.3:c.1021T>G
  • NM_001281724.3:c.1021T>G
  • NM_001281725.2:c.1021T>G
  • NM_001281726.2:c.*2799T>G
  • NM_001323582.1:c.1021T>G
  • NM_001370658.1:c.1021T>GMANE SELECT
  • NM_001370752.1:c.1015+6T>G
  • NM_001370753.1:c.399+2880T>G
  • NP_001268652.2:p.Phe341Val
  • NP_001268653.2:p.Phe341Val
  • NP_001268654.1:p.Phe341Val
  • NP_001310511.1:p.Phe341Val
  • NP_001357587.1:p.Phe341Val
  • NC_000003.11:g.15686444T>G
Protein change:
F341V; PHE361VAL
Links:
OMIM: 609019.0012
Molecular consequence:
  • NM_001281726.2:c.*2799T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370752.1:c.1015+6T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+2880T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281723.3:c.1021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.2:c.1021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.1:c.1021T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1021T>G - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001427040OMIMno assertion criteria providedPathogenic
(Aug 6, 2020)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.

Carvalho NO, Del Castillo DM, Januário JN, Starling ALP, Arantes RR, Norton RC, Viana MB.

Am J Med Genet A. 2019 Jun;179(6):978-982. doi: 10.1002/ajmg.a.61137. Epub 2019 Mar 26.

PubMed [citation]
PMID:
30912303

Details of each submission

From OMIM, SCV001427040.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Of 14 Brazilian children with biotinidase deficiency (253260) identified by newborn screening, Carvalho et al. (2019) identified 2 with a homozygous c.1081T-G transversion in exon 4 of the BTD gene, resulting in a phe361-to-val (F361V) substitution. Biotinidase enzyme activity in serum from both patients was in the partially deficient range. Serum enzyme testing in a mother from one of these patients showed biotinidase activity in the heterozygote range. Two other children were compound heterozygous for the F361V mutation and another BTD mutation, in one case with D444H (609019.0005). Biotinidase enzyme activity in serum from both children was in the partially deficient range.

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

Last Updated: Oct 7, 2021

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