ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) (rs1288017883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667097 SCV000791494 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-17 criteria provided, single submitter clinical testing
Invitae RCV000667097 SCV001225803 likely pathogenic Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 307 of the PKHD1 protein (p.Ile307Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15108281, 19914852). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551925). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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