ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.3008A>G (p.Tyr1003Cys)

gnomAD frequency: 0.00003  dbSNP: rs367833212
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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 RCV001954483 SCV002191370 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1003 of the CAD protein (p.Tyr1003Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs367833212, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CAD-related conditions. 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004571618 SCV005049941 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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