ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) (rs751084512)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474720 SCV000545845 pathogenic Autosomal recessive polycystic kidney disease 2017-04-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 2303 of the PKHD1 protein (p.Ile2303Phe). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs751084512, ExAC 0.2%). This variant has been observed on the opposite chromosome (in trans) from PKHD1 pathogenic variants in 4 unrelated individuals and two siblings affected with autosomal recessive polycystic kidney disease (PMID: 15108281, 15698423, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease in these families. 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"). For these reasons, this variant has been classified as Pathogenic.

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