ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10232G>C (p.Trp3411Ser)

gnomAD frequency: 0.00001  dbSNP: rs549326097
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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 RCV004506321 SCV005006680 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.10229G>C (p.W3410S) alteration is located in exon 33 (coding exon 33) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 10229, causing the tryptophan (W) at amino acid position 3410 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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