ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)

dbSNP: rs199859507
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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 RCV001246806 SCV001420191 uncertain significance Biotinidase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 519 of the BTD protein (p.Tyr519Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs199859507, ExAC 0.01%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002568667 SCV003746299 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.1556A>G (p.Y519C) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a A to G substitution at nucleotide position 1556, causing the tyrosine (Y) at amino acid position 519 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001246806 SCV002081578 uncertain significance Biotinidase deficiency 2020-02-27 no assertion criteria provided clinical testing

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