ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys)

gnomAD frequency: 0.00004  dbSNP: rs367918229
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332657 SCV001525037 uncertain significance Polycystic kidney disease, adult type 2019-09-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001664833 SCV001873693 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001332657 SCV002787178 uncertain significance Polycystic kidney disease, adult type 2021-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035744 SCV005005281 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.7405C>T (p.R2469C) alteration is located in exon 18 (coding exon 18) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 7405, causing the arginine (R) at amino acid position 2469 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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