ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)

dbSNP: rs757543551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670185 SCV000795013 uncertain significance Usher syndrome type 1F 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532096 SCV003451137 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1953Ilefs*12) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the PCDH15 protein. This variant is present in population databases (rs757543551, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 554530). 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.

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