ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)

gnomAD frequency: 0.00001  dbSNP: rs775369290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000503 SCV002258660 uncertain significance Biotinidase deficiency 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is present in population databases (rs775369290, gnomAD 0.007%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 371 of the BTD protein (p.Cys371Arg). ClinVar contains an entry for this variant (Variation ID: 1481279). 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. 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").
Ambry Genetics RCV004042441 SCV004915844 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.1111T>C (p.C371R) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a T to C substitution at nucleotide position 1111, causing the cysteine (C) at amino acid position 371 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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