ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)

gnomAD frequency: 0.00001  dbSNP: rs751223759
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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 RCV003202192 SCV003886998 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.4723G>A (p.G1575S) 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 4723, causing the glycine (G) at amino acid position 1575 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012800 SCV005641126 uncertain significance Polycystic kidney disease, adult type 2024-04-04 criteria provided, single submitter clinical testing

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