ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.807C>G (p.Phe269Leu)

dbSNP: rs2092670827
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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 RCV002892642 SCV003648050 uncertain significance Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing The c.807C>G (p.F269L) alteration is located in exon 5 (coding exon 5) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 807, causing the phenylalanine (F) at amino acid position 269 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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