ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2921C>T (p.Ser974Phe)

gnomAD frequency: 0.00001  dbSNP: rs1223669515
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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 RCV002793400 SCV003595553 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.2921C>T (p.S974F) alteration is located in exon 12 (coding exon 12) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 2921, causing the serine (S) at amino acid position 974 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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