ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)

gnomAD frequency: 0.00001  dbSNP: rs397514409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326990 SCV001518047 uncertain significance Biotinidase deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 417 of the BTD protein (p.Val417Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BTD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV001326990 SCV003830198 uncertain significance Biotinidase deficiency 2021-06-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001326990 SCV002081574 uncertain significance Biotinidase deficiency 2020-08-24 no assertion criteria provided clinical testing

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