ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3964G>T (p.Ala1322Ser)

gnomAD frequency: 0.00003  dbSNP: rs1461191453
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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 RCV002925332 SCV003668178 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.3964G>T (p.A1322S) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to T substitution at nucleotide position 3964, causing the alanine (A) at amino acid position 1322 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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