ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)

dbSNP: rs144091742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756498 SCV000884329 uncertain significance not provided 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000756498 SCV001815631 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27567292)
Ambry Genetics RCV004027130 SCV005005245 likely benign Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003965563 SCV004778857 benign PKD1-related disorder 2019-11-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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