ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10862G>A (p.Arg3621Gln)

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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 RCV004961893 SCV005468778 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.10859G>A (p.R3620Q) alteration is located in exon 37 (coding exon 37) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 10859, causing the arginine (R) at amino acid position 3620 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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