ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2585C>G (p.Pro862Arg)

gnomAD frequency: 0.00004  dbSNP: rs761489072
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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 RCV004506359 SCV005004670 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.2585C>G (p.P862R) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 2585, causing the proline (P) at amino acid position 862 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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