ClinVar Miner

Submissions for variant NM_145038.5(DRC1):c.1976del (p.Ser659fs)

dbSNP: rs772974990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336981 SCV001530527 pathogenic Primary ciliary dyskinesia 21 2018-01-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV005094442 SCV005782809 pathogenic Primary ciliary dyskinesia 2024-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser659Trpfs*7) in the DRC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DRC1 are known to be pathogenic (PMID: 23354437, 31960620). This variant is present in population databases (rs772974990, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DRC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034291). For these reasons, this variant has been classified as Pathogenic.

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