ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.673C>T (p.Arg225Cys)

dbSNP: rs2151062848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997840 SCV002251125 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2020-11-14 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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. This variant has not been reported in the literature in individuals with CORO1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 225 of the CORO1A protein (p.Arg225Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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