ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1066-3_1066-2del

dbSNP: rs2151063462
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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 RCV001902938 SCV002164001 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2021-12-03 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the CORO1A gene. It does not directly change the encoded amino acid sequence of the CORO1A protein. 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as c.1066-3_1066-2del. 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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