ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.844C>T (p.His282Tyr)

dbSNP: rs398123142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078081 SCV000109919 uncertain significance not provided 2013-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513820 SCV003480055 uncertain significance Biotinidase deficiency 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 302 of the BTD protein (p.His302Tyr). This variant is present in population databases (rs398123142, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 92403). 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: "Probably 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.
Ambry Genetics RCV002515754 SCV003547284 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.904C>T (p.H302Y) alteration is located in exon 4 (coding exon 4) of the BTD gene. This alteration results from a C to T substitution at nucleotide position 904, causing the histidine (H) at amino acid position 302 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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