ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)

dbSNP: rs2125504798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918868 SCV002184887 uncertain significance Biotinidase deficiency 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 417 of the BTD protein (p.Val417Glu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with biotinidase deficiency (PMID: 19757147, 30616616). ClinVar contains an entry for this variant (Variation ID: 1411643). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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