ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) (rs45483395)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039717 SCV000063406 likely benign not specified 2013-10-11 criteria provided, single submitter clinical testing p.Arg962Leu in exon 22 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.3% (35/11558) of Latino chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs45483395). In addition, a different variant at the same position (p.Arg 962His) has also been identified in 0.7% (73/10320) of African chromosomes (ExAC ,; dbSNP rs45483395). The arginine (Arg) at posit ion 962 is not conserved in mammals or evolutionarily distant species and 5 spec ies (Zebra finch, and 4 fish) carry a leucine (Leu) at this position, raising th e possibility that this change may be tolerated. Additional computational predic tion tools suggest that this variant may not impact the protein.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723804 SCV000203210 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384096 SCV000363170 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273097 SCV000363171 uncertain significance Usher syndrome type 1 2018-01-12 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.
GeneDx RCV000723804 SCV000981076 likely benign not provided 2018-05-24 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 RCV000723804 SCV001037366 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723804 SCV001147899 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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