ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)

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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 RCV002509882 SCV002817384 uncertain significance Autosomal recessive nonsyndromic hearing loss 23 2022-11-25 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 16 of the PCDH15 gene that results in the amino acid substitution of Valine for Leucine at codon 663 (p.Leu663Va) was detected The p.Leu663Val variant has not been reported in the 1000 genomes and gnomAD databases. The in-silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv). The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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