ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.248_249del (p.Pro83fs)

dbSNP: rs606231246
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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 RCV000033858 SCV002229400 pathogenic Severe combined immunodeficiency due to CORO1A deficiency 2022-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro83Argfs*11) 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. ClinVar contains an entry for this variant (Variation ID: 40886). This premature translational stop signal has been observed in individual(s) with severe combined immunodeficiency (SCID) (PMID: 18836449, 27577878). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000033858 SCV000057764 pathogenic Severe combined immunodeficiency due to CORO1A deficiency 2014-10-01 no assertion criteria provided literature only

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