ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8392G>A (p.Gly2798Ser)

gnomAD frequency: 0.00010  dbSNP: rs139544953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002670573 SCV003719242 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.8392G>A (p.G2798S) alteration is located in exon 23 (coding exon 23) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 8392, causing the glycine (G) at amino acid position 2798 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356335 SCV005912131 uncertain significance Polycystic kidney disease, adult type 2022-10-05 criteria provided, single submitter clinical testing

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