ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) (rs141349745)

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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 RCV000082518 SCV000114560 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Counsyl RCV000671676 SCV000796674 uncertain significance Autosomal recessive polycystic kidney disease 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671676 SCV000831087 uncertain significance Autosomal recessive polycystic kidney disease 2019-03-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3637 of the PKHD1 protein (p.Arg3637Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs141349745, ExAC 0.04%). This variant has been reported in an individual with symptoms of polycystic kidney disease (PMID: 16523049). ClinVar contains an entry for this variant (Variation ID: 96368). 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: "Possibly 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.
Illumina Clinical Services Laboratory,Illumina RCV000671676 SCV001321742 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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