ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) (rs142107837)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169334 SCV000220676 likely pathogenic Autosomal recessive polycystic kidney disease 2014-09-08 criteria provided, single submitter literature only
Invitae RCV000169334 SCV000629914 pathogenic Autosomal recessive polycystic kidney disease 2019-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1123 of the PKHD1 protein (p.Gly1123Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs142107837, ExAC 0.001%). This variant has been observed in combination with other PKHD1 variants in individuals affected with autosomal recessive polycystic kidney disease (PMID: 12506140, 12874454, 15698423, 15805161, Invitae). Individuals homozygous for this variant have also been described, generally with later onset of disease than other reported individuals (PMID: 15805161, 25966130). ClinVar contains an entry for this variant (Variation ID: 188959). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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