ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.847C>T (p.His283Tyr)

gnomAD frequency: 0.00005  dbSNP: rs144084212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298188 SCV000441827 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000298188 SCV002221196 uncertain significance Biotinidase deficiency 2021-11-02 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 303 of the BTD protein (p.His303Tyr). This variant is present in population databases (rs144084212, gnomAD 0.2%). 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: 343908). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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