ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2426A>C (p.His809Pro)

dbSNP: rs1567210816
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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 RCV004506356 SCV005004667 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.2426A>C (p.H809P) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a A to C substitution at nucleotide position 2426, causing the histidine (H) at amino acid position 809 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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