ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1711G>A (p.Glu571Lys)

gnomAD frequency: 0.00003  dbSNP: rs774162357
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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 RCV003244334 SCV003940934 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.1711G>A (p.E571K) alteration is located in exon 8 (coding exon 8) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 1711, causing the glutamic acid (E) at amino acid position 571 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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