ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.103C>T (p.Pro35Ser)

gnomAD frequency: 0.00001  dbSNP: rs1016742393
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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 RCV004506323 SCV005006683 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.103C>T (p.P35S) alteration is located in exon 1 (coding exon 1) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 103, causing the proline (P) at amino acid position 35 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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