ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)

gnomAD frequency: 0.41087  dbSNP: rs9296669
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082549 SCV000114591 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082549 SCV000315800 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282648 SCV000464088 benign Autosomal recessive polycystic kidney disease 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 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000082549 SCV000966327 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala1262Val in exon 32 of PKHD1: This variant is not expected to have clinical significance because it has been identified in 66.59% (7676/11528) of Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs9296669).
Invitae RCV000282648 SCV001000021 benign Autosomal recessive polycystic kidney disease 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001530435 SCV001745263 benign Polycystic kidney disease 4 2021-06-19 criteria provided, single submitter clinical testing
GeneDx RCV001705799 SCV001893115 benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530435 SCV002029996 benign Polycystic kidney disease 4 2021-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291850 SCV000592894 benign Polycystic kidney disease no assertion criteria provided clinical testing Thec.3785C>T, p.Ala1262Val variant was identified in 46.98% of 56668 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Natera, Inc. RCV000282648 SCV002080984 benign Autosomal recessive polycystic kidney disease 2017-05-11 no assertion criteria provided clinical testing

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