ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV001060374 SCV001225057 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the PCDH15 gene (p.Ser1950Asnfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the PCDH15 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 855174). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Natera, Inc. RCV001827380 SCV002076664 uncertain significance Usher syndrome type 1F 2020-02-26 no assertion criteria provided clinical testing

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