ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2821C>T (p.Pro941Ser)

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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 RCV004961974 SCV005469505 uncertain significance Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing The c.2821C>T (p.P941S) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 2821, causing the proline (P) at amino acid position 941 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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