ClinVar Miner

Submissions for variant NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)

dbSNP: rs1558457993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219323 SCV001391256 uncertain significance Primary ciliary dyskinesia 2019-04-06 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. This variant disrupts a region of the protein in which other variant(s) (p.Arg736Gln) have been observed in individuals with DRC1-related conditions (Invitae). This suggests that this may be a clinically significant region of the DRC1 protein. This variant has not been reported in the literature in individuals with DRC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DRC1 gene (p.Arg694Alafs*30). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the DRC1 protein.
Fulgent Genetics, Fulgent Genetics RCV002491682 SCV002804070 uncertain significance Primary ciliary dyskinesia 21 2021-12-28 criteria provided, single submitter clinical testing

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