ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.2010dup (p.Ser671fs)

dbSNP: rs1400425886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795890 SCV000935370 likely pathogenic Primary ciliary dyskinesia 2018-09-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RSPH4A gene (p.Ser671Glnfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acids of the RSPH4A protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed to be homozygous in an individual affected with clinical features of primary ciliary dyskinesia (Invitae). This variant is not present in population databases (ExAC no frequency).

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