ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala)

gnomAD frequency: 0.00006  dbSNP: rs1178172751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663785 SCV001879437 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539658 SCV003558508 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.4916G>C (p.G1639A) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 4916, causing the glycine (G) at amino acid position 1639 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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