ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2591G>A (p.Gly864Asp)

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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 RCV005391678 SCV006045328 uncertain significance Inborn genetic diseases 2025-02-19 criteria provided, single submitter clinical testing The c.2591G>A (p.G864D) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 2591, causing the glycine (G) at amino acid position 864 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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