ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1349C>G (p.Pro450Arg)

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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 RCV004961954 SCV005475122 uncertain significance Inborn genetic diseases 2024-09-20 criteria provided, single submitter clinical testing The c.1349C>G (p.P450R) alteration is located in exon 6 (coding exon 6) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 1349, causing the proline (P) at amino acid position 450 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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