ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3502-8C>T (rs184144118)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039728 SCV000063417 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 3502-8C>T in Intron 26 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.7% (52/7020) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039728 SCV000228482 benign not specified 2015-01-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342058 SCV000363158 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407955 SCV000363159 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.
GeneDx RCV000039728 SCV000717935 likely benign not specified 2017-12-06 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761719 SCV000891904 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000039728 SCV000919960 benign not specified 2018-01-22 criteria provided, single submitter clinical testing Variant summary: The PCDH15 c.3502-8C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 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 1152/262912 control chromosomes (6 homozygotes), predominantly observed in the Ashkenazi Jewish subpopulation at a frequency of 0.008337 (83/9956). This frequency is about 3 times the estimated maximal expected allele frequency of a pathogenic PCDH15 variant (0.0031623), suggesting this is likely a benign polymorphism found primarily in the populations of Ashkenazi Jewish origin. The variant of interest has been reported in a study cohort of UK Usher patients, and was classified by authors as neutral (Le Quesne Stabej_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000761719 SCV001106855 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000761719 SCV001144872 benign not provided 2019-02-11 criteria provided, single submitter clinical testing

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