ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5732T>C (p.Leu1911Pro)

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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 RCV004657321 SCV005153364 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.5732T>C (p.L1911P) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a T to C substitution at nucleotide position 5732, causing the leucine (L) at amino acid position 1911 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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