ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.973C>T (p.Arg325Cys)

dbSNP: rs757576567
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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 RCV001304251 SCV001493524 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2020-07-08 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CORO1A-related conditions. This sequence change replaces arginine with cysteine at codon 325 of the CORO1A protein (p.Arg325Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs757576567, ExAC 0.006%).

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