ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)

gnomAD frequency: 0.00003  dbSNP: rs781184044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002965593 SCV003703469 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.4918G>A (p.G1640S) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 4918, causing the glycine (G) at amino acid position 1640 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003151923 SCV003840390 uncertain significance not provided 2022-09-09 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 RCV005011166 SCV005641104 uncertain significance Polycystic kidney disease, adult type 2024-04-30 criteria provided, single submitter clinical testing

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