ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6898A>G (p.Asn2300Asp)

dbSNP: rs2127622765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251290 SCV002521883 uncertain significance Polycystic kidney disease 4 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Protein truncation variants are a common disease-causing mechanism. A different missense change at the same codon (p.Asn2300Lys) has been reported to be associated with PKHD1 related disorder (PMID: 27225849). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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