ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8942C>A (p.Ser2981Tyr)

gnomAD frequency: 0.00009  dbSNP: rs767311081
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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 RCV002694605 SCV003738460 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.8942C>A (p.S2981Y) alteration is located in exon 24 (coding exon 24) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 8942, causing the serine (S) at amino acid position 2981 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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