ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.321+14G>A

dbSNP: rs1596918002
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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 RCV001986446 SCV002281533 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2021-11-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. 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). This sequence change falls in intron 3 of the CORO1A gene. It does not directly change the encoded amino acid sequence of the CORO1A protein.

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