ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3421G>A (p.Gly1141Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005391696 SCV006046159 uncertain significance Inborn genetic diseases 2025-01-13 criteria provided, single submitter clinical testing The c.3421G>A (p.G1141S) 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 3421, causing the glycine (G) at amino acid position 1141 to be replaced by a serine (S). This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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