ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.3679_3682del (p.Asp1227fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003234502 SCV003930832 likely pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with a CC2D2A-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 31964843)
Fulgent Genetics, Fulgent Genetics RCV005036707 SCV005664559 likely pathogenic Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 2024-06-04 criteria provided, single submitter clinical testing

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