ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.689C>T (p.Ser230Leu)

gnomAD frequency: 0.00001  dbSNP: rs754616768
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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 RCV001203368 SCV001374530 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2019-09-30 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 230 of the CORO1A protein (p.Ser230Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs754616768, ExAC 0.002%). This variant has not been reported in the literature in individuals with CORO1A-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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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