ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)

dbSNP: rs2091705970
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001280899 SCV001752516 pathogenic Polycystic kidney disease, adult type 2022-03-13 criteria provided, single submitter clinical testing
GeneDx RCV003166614 SCV003915063 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17582161, 30333007, 31317121, 25340609, 27499327, 15775720, 22508176, 24694054, 31740684, 23431072)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001280899 SCV005418264 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PS4_Moderate+PP4
Ambry Genetics RCV004960677 SCV005475087 uncertain significance Inborn genetic diseases 2024-07-11 criteria provided, single submitter clinical testing The c.10948G>A (p.G3650S) alteration is located in exon 37 (coding exon 37) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 10948, causing the glycine (G) at amino acid position 3650 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280899 SCV001468245 pathogenic Polycystic kidney disease, adult type 2020-02-24 no assertion criteria provided clinical testing

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