ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6710G>A (p.Arg2237Lys)

gnomAD frequency: 0.00025  dbSNP: rs144673879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001487484 SCV001691972 likely benign Autosomal recessive polycystic kidney disease 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562714 SCV003550770 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.6710G>A (p.R2237K) alteration is located in exon 41 (coding exon 40) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 6710, causing the arginine (R) at amino acid position 2237 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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