ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)

dbSNP: rs551162125
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001573889 SCV002563293 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PKD1: BP4, BP5
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005395084 SCV006052529 uncertain significance Polycystic kidney disease, adult type 2024-10-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573889 SCV001800399 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001573889 SCV001954839 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948617 SCV004768834 uncertain significance PKD1-related disorder 2023-12-21 no assertion criteria provided clinical testing The PKD1 c.3548C>T variant is predicted to result in the amino acid substitution p.Ser1183Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of South Asian descent in gnomAD. Although we suspect this variant could be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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