ClinVar Miner

Submissions for variant NM_001142771.2(PCDH15):c.4497+1559C>T (rs368397508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668969 SCV000793655 uncertain significance Usher syndrome type 1F 2017-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002355 SCV001160260 uncertain significance not specified 2019-02-25 criteria provided, single submitter clinical testing The PCDH15 c.5068C>T; p.Gln1690Ter variant (rs368397508), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 553502; reported as NM_033056.3(PCDH15):c.*12861C>T). This variant introduces an early termination codon in the terminal exon (37/37) of the NM_001142769.1 (CD2.1) transcript, which may not lead to nonsense-mediated decay, and it is expected to truncate the mature peptide by 6%. When annotated using the NM_033056.3 transcript (which encodes the longest peptide), this variant is positioned downstream of the 3' UTR. The c.5068C>T variant is found in the non-Finnish European population with an allele frequency of 0.004% (3/75,182 alleles) in the Genome Aggregation Database. Due to limited information, the clinical significance of this variant is uncertain.

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