ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) (rs752432638)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788571 SCV000927726 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Counsyl RCV000673778 SCV000799021 uncertain significance Autosomal recessive polycystic kidney disease 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV000673778 SCV000953441 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1697 of the PKHD1 protein (p.Gly1697Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs752432638, ExAC 0.005%). This variant has not been reported in the literature in individuals with PKHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 557612). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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