ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1080G>A (p.Gln360=)

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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 RCV003074449 SCV003452994 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-01-17 criteria provided, single submitter clinical testing This sequence change affects codon 360 of the CORO1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CORO1A protein. This variant is present in population databases (rs753747500, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. 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.

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