ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3269A>G (p.Asn1090Ser)

gnomAD frequency: 0.00003  dbSNP: rs750288921
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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 RCV002879058 SCV003642848 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.3269A>G (p.N1090S) alteration is located in exon 14 (coding exon 14) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 3269, causing the asparagine (N) at amino acid position 1090 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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