ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9950C>T (p.Pro3317Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004657308 SCV005153333 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.9950C>T (p.P3317L) alteration is located in exon 30 (coding exon 30) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 9950, causing the proline (P) at amino acid position 3317 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004767666 SCV005379567 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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