ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.367C>A (p.Pro123Thr)

dbSNP: rs201721540
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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 RCV001885686 SCV002147441 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-02-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs201721540, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 123 of the CORO1A protein (p.Pro123Thr). This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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