ClinVar Miner

Submissions for variant NM_001010892.3(RSPH4A):c.1818dup (p.Trp607fs)

dbSNP: rs748664881
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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 RCV000824452 SCV000965351 likely pathogenic Primary ciliary dyskinesia 2018-08-30 criteria provided, single submitter clinical testing 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. The observation of one or more missense substitutions downstream of this variant (p.Tyr645Cys) in affected individuals suggests that this may be a clinically significant region of the RSPH4A protein (Invitae). This variant has been observed in combination with another RSPH4A variant in an individual affected with primary ciliary dyskinesia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the RSPH4A gene (p.Trp607Leufs*36). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 110 amino acids of the RSPH4A protein.

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