ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.670G>A (p.Val224Met)

gnomAD frequency: 0.00002  dbSNP: rs763891563
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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 RCV000698033 SCV000826673 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2021-12-13 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 224 of the CORO1A protein (p.Val224Met). This variant is present in population databases (rs763891563, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 575728). 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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