ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)

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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 RCV003031427 SCV003318854 pathogenic Severe combined immunodeficiency due to CORO1A deficiency 2022-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu173*) in the CORO1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CORO1A are known to be pathogenic (PMID: 18836449, 25073507). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. This variant is not present in population databases (gnomAD no frequency).

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