ClinVar Miner

Submissions for variant NM_052988.5(CDK10):c.716_728del (p.Leu239fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465013 SCV002759405 pathogenic Al Kaissi syndrome 2022-07-01 criteria provided, single submitter clinical testing The c.716_728del variant was identified as a part of carrier screening. This variant is not present in publicly available population databases like 1000 Genomes, EVS gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, HGMD and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious. The variant causes frameshift at the 240th amino acid position of the wild-type transcript which creates a translational premature stop signal at the 251th amino acid position of the altered transcript that either may causes nonsense mediated decay of the mRNA or results in translating a truncated protein. Previously, a missense variant (Thr242Ser), at this location was reported to HGMD (ID: CM1512662), in affected individuals (PMID: 26539891).

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