ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.568G>A (p.Ala190Thr)

gnomAD frequency: 0.02396  dbSNP: rs117078377
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078583 SCV000110439 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078583 SCV000303537 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999979 SCV000451549 benign Polycystic kidney disease 2 2018-03-06 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999979 SCV000604824 benign Polycystic kidney disease 2 2019-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000369049 SCV000999993 benign Autosomal dominant polycystic kidney disease 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001719816 SCV001949019 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17574468, 22008521, 22863349, 18837007, 11438989, 20981092, 15192819, 27894351)
Breakthrough Genomics, Breakthrough Genomics RCV001719816 SCV005303316 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291909 SCV000592875 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.568G>A, p.Ala190Thr variant was identified in 6.32% of 645 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).

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