ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12170G>A (p.Ser4057Asn)

gnomAD frequency: 0.00001  dbSNP: rs763170710
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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 RCV002674207 SCV003715937 uncertain significance Inborn genetic diseases 2022-08-11 criteria provided, single submitter clinical testing The c.12167G>A (p.S4056N) alteration is located in exon 45 (coding exon 45) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 12167, causing the serine (S) at amino acid position 4056 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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