ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) (rs747322128)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633431 SCV000754655 likely pathogenic Autosomal recessive polycystic kidney disease 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2773 of the PKHD1 protein (p.Val2773Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs747322128, ExAC 0.002%). This variant has been observed in individual(s) with clinical features of autosomal recessive polycystic kidney disease (PMID: 16133180, 19940839, Invitae). 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: 528299). 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.
Counsyl RCV000633431 SCV000797808 likely pathogenic Autosomal recessive polycystic kidney disease 2018-02-13 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000681915 SCV000809398 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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