ClinVar Miner

Submissions for variant NC_000001.10:g.(?_41474523)_(41510926_?)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 RCV001916487 SCV002184185 uncertain significance Severe combined immunodeficiency due to CTPS1 deficiency 2021-09-10 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 CTPS1-related conditions. This variant results in the deletion of part of exon 16 and exons 17-19 (c.1507_*33606del) of the CTPS1 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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