ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) (rs111033496)

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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 RCV000039733 SCV000063422 benign not specified 2011-09-17 criteria provided, single submitter clinical testing Glu1265Asp in exon 28 of PCDH15: Glutamate at position 2072 is not conserved acr oss species (3 other amino acids at this position across 14 species) and the Asp artate variant is present in chicken and frog, suggesting that variation at this position is tolerated and unlikely to disrupt protein function. In addition, th is variant is predicted to be benign by three computational programs (AlignGVGD, SIFT, PolyPhen2). In summary, this variant is likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000290417 SCV000363154 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347883 SCV000363155 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000039733 SCV000514046 benign not specified 2016-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000956825 SCV001103612 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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