ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4671+1393G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002281542 SCV002569373 uncertain significance Usher syndrome type 1F criteria provided, single submitter clinical testing A heterozygous missense variation in exon 37 of the PCDH1 gene that results in the amino acid substitution of Aspartic acid for Glutamic acid at codon 1634 was detected. The observed variant c.4902G>C (p.p.Glu1634Asp) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by SIFT. The reference codon is conserved across species. In summery, the variant meets our criteria to be classified as variant of uncertain significance.

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