ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12209G>A (p.Gly4070Glu)

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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 RCV004961973 SCV005469503 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The c.12206G>A (p.G4069E) alteration is located in exon 45 (coding exon 45) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 12206, causing the glycine (G) at amino acid position 4069 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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