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NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 6, 2020)
Last evaluated:
Aug 6, 2020
Accession:
VCV000975026.1
Variation ID:
975026
Description:
single nucleotide variant
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NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)

Allele ID
963321
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15645457 (GRCh38) GRCh38 UCSC
3: 15686964 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001281726.2:c.*3319C>T 3 prime UTR
NM_001323582.1:c.1541C>T NP_001310511.1:p.Ala514Val missense
NM_001370658.1:c.1541C>T MANE Select NP_001357587.1:p.Ala514Val missense
... more HGVS
Protein change
A514V
Other names
A534V
Canonical SPDI
NC_000003.12:15645456:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 609019.0013
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 6, 2020 RCV001251433.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BTD - - GRCh38
GRCh37
427 464

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 06, 2020)
no assertion criteria provided
Method: literature only
BIOTINIDASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV001427041.1
Submitted: (Aug 06, 2020)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil. Carvalho NO American journal of medical genetics. Part A 2019 PMID: 30912303

Record last updated Oct 08, 2021