ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.326G>A (p.Gly109Glu)

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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 RCV004961959 SCV005469487 uncertain significance Inborn genetic diseases 2024-10-11 criteria provided, single submitter clinical testing The c.326G>A (p.G109E) alteration is located in exon 3 (coding exon 3) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 326, causing the glycine (G) at amino acid position 109 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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