ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2176C>T (p.Arg726Ter)

dbSNP: rs754855261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578699 SCV000681254 likely pathogenic not provided 2017-12-12 criteria provided, single submitter clinical testing The R726X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R726X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000578699 SCV004449776 pathogenic not provided 2023-09-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs754855261, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg726*) in the CC2D1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D1A are known to be pathogenic (PMID: 16033914). This variant has not been reported in the literature in individuals affected with CC2D1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 489260). For these reasons, this variant has been classified as Pathogenic.

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