ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) (rs752994816)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592239 SCV000705484 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000668244 SCV000792817 uncertain significance Autosomal recessive polycystic kidney disease 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000668244 SCV000815446 uncertain significance Autosomal recessive polycystic kidney disease 2018-04-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2573 of the PKHD1 protein (p.Arg2573Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs752994816, ExAC 0.006%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with autosomal recessive polycystic kidney disease (PMID: 27225849). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease.  This variant was also reported in an additional affected individual, however in this individual a second PKHD1 variant was not reported (PMID: 19914852, 20413436). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Blueprint Genetics RCV000592239 SCV000927444 likely pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing

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