ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1252G>A (p.Ala418Thr)

gnomAD frequency: 0.00007  dbSNP: rs757620393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793097 SCV000932436 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 418 of the CORO1A protein (p.Ala418Thr). This variant is present in population databases (rs757620393, gnomAD 0.01%). 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: 640137). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CORO1A protein function. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692249 SCV005194314 uncertain significance not provided criteria provided, single submitter not provided

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