ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.243G>A (p.Val81=) (rs151119732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039711 SCV000063400 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing p.Val81Val in Exon 4 of PCDH15: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction. It has also been identified in 0.1% (68/66706) European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; rs15119732).
Illumina Clinical Services Laboratory,Illumina RCV000355851 SCV000363250 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261127 SCV000363251 uncertain significance Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000587293 SCV000699757 likely benign not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: The PCDH15 c.243G>A (p.Val81Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 81/121286 control chromosomes at a frequency of 0.0006678, which does not exceed the estimated maximal expected allele frequency of a pathogenic PCDH15 variant (0.0031623). One clinical diagnostic laboratory has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases. Taken together, this variant is classified as Likely Benign.
Invitae RCV000587293 SCV001038407 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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