ClinVar Miner

Submissions for variant NC_000016.9:g.(?_30199895)_(30237215_?)del

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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 RCV003109607 SCV003791594 uncertain significance Severe combined immunodeficiency due to CORO1A deficiency 2022-03-17 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CORO1A-related conditions. This variant results in the deletion of exon 11 and part of exon 10 (c.1280_*36931del) of the CORO1A gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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