ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1249dup (p.Ala417fs)

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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 RCV002796820 SCV003201526 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-05-17 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CORO1A gene (p.Ala417Glyfs*76). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the CORO1A protein and extend the protein by 30 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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