ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3293C>T (p.Pro1098Leu)

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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 RCV004961968 SCV005469498 uncertain significance Inborn genetic diseases 2024-10-24 criteria provided, single submitter clinical testing The c.3293C>T (p.P1098L) alteration is located in exon 14 (coding exon 14) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 3293, causing the proline (P) at amino acid position 1098 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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