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NM_001370658.1(BTD):c.1310T>C (p.Val437Ala) AND Biotinidase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2022
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:
RCV002514372.9

Allele description [Variation Report for NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)]

NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)

Gene:
BTD:biotinidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
HGVS:
  • NC_000003.12:g.15645226T>C
  • NG_008019.2:g.48875T>C
  • NG_008019.3:g.48876T>C
  • NM_000060.4:c.1370T>C
  • NM_001281723.4:c.1310T>C
  • NM_001281724.3:c.1310T>C
  • NM_001281725.3:c.1310T>C
  • NM_001323582.2:c.1310T>C
  • NM_001370658.1:c.1310T>CMANE SELECT
  • NM_001370752.1:c.1015+295T>C
  • NM_001370753.1:c.399+3169T>C
  • NM_001407364.1:c.1310T>C
  • NM_001407365.1:c.1310T>C
  • NM_001407366.1:c.1310T>C
  • NM_001407367.1:c.1310T>C
  • NM_001407368.1:c.1310T>C
  • NM_001407369.1:c.1310T>C
  • NM_001407370.1:c.1310T>C
  • NM_001407371.1:c.1310T>C
  • NM_001407372.1:c.1310T>C
  • NM_001407373.1:c.1310T>C
  • NM_001407374.1:c.1310T>C
  • NM_001407375.1:c.1310T>C
  • NM_001407376.1:c.1310T>C
  • NM_001407377.1:c.1310T>C
  • NM_001407378.1:c.1310T>C
  • NP_000051.1:p.Val457Ala
  • NP_001268652.2:p.Val437Ala
  • NP_001268652.2:p.Val437Ala
  • NP_001268653.2:p.Val437Ala
  • NP_001268654.1:p.Val437Ala
  • NP_001268654.1:p.Val437Ala
  • NP_001310511.1:p.Val437Ala
  • NP_001310511.1:p.Val437Ala
  • NP_001357587.1:p.Val437Ala
  • NP_001394293.1:p.Val437Ala
  • NP_001394294.1:p.Val437Ala
  • NP_001394295.1:p.Val437Ala
  • NP_001394296.1:p.Val437Ala
  • NP_001394297.1:p.Val437Ala
  • NP_001394298.1:p.Val437Ala
  • NP_001394299.1:p.Val437Ala
  • NP_001394300.1:p.Val437Ala
  • NP_001394301.1:p.Val437Ala
  • NP_001394302.1:p.Val437Ala
  • NP_001394303.1:p.Val437Ala
  • NP_001394304.1:p.Val437Ala
  • NP_001394305.1:p.Val437Ala
  • NP_001394306.1:p.Val437Ala
  • NP_001394307.1:p.Val437Ala
  • NC_000003.11:g.15686733T>C
  • NM_001281723.3:c.1310T>C
  • NM_001281725.2:c.1310T>C
  • NM_001323582.1:c.1310T>C
Protein change:
V437A
Links:
dbSNP: rs149690919
NCBI 1000 Genomes Browser:
rs149690919
Molecular consequence:
  • NM_001370752.1:c.1015+295T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370753.1:c.399+3169T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000060.4:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281723.4:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281724.3:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281725.3:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323582.2:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370658.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407364.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407365.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407366.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407367.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407368.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407369.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407370.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407371.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407372.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407373.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407374.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407375.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407376.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407377.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407378.1:c.1310T>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
SCV003285998Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 13, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.

Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B.

Pediatr Res. 1997 Dec;42(6):840-8.

PubMed [citation]
PMID:
9396567

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

Yilmaz S, Serin M, Canda E, Eraslan C, Tekin H, Ucar SK, Gokben S, Tekgul H, Serdaroglu G.

Metab Brain Dis. 2017 Jun;32(3):675-678. doi: 10.1007/s11011-017-9984-5. Epub 2017 Mar 9.

PubMed [citation]
PMID:
28281033
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003285998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 457 of the BTD protein (p.Val457Ala). This variant is present in population databases (rs149690919, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 92398). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant disrupts the p.Val457 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9396567, 28281033). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: Oct 26, 2024