ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)

dbSNP: rs1338600699
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668779 SCV000793432 uncertain significance Usher syndrome type 1F 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868225 SCV002189272 likely benign not provided 2024-04-22 criteria provided, single submitter clinical testing
GeneDx RCV001868225 SCV003933433 uncertain significance not provided 2024-10-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 178 amino acids are replaced with 69 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV001868225 SCV005190756 uncertain significance not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004768530 SCV005380734 uncertain significance not specified 2024-08-09 criteria provided, single submitter clinical testing Variant summary: PCDH15 c.5332dupT (p.Cys1778LeufsX70) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein. Truncating variants in the last exon of PCDH15 have uncertain impact on protein function. The variant allele was found at a frequency of 2.8e-05 in 181112 control chromosomes in the gnomAD database, including 1 homozygotes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5332dupT in individuals affected with Usher Syndrome Type 1F and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 553355). Based on the evidence outlined above, the variant was classified as uncertain significance.

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