ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9532G>T (p.Gly3178Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002287704 SCV002577846 likely pathogenic Polycystic kidney disease 2021-09-29 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP2,PP5
Invitae RCV003502617 SCV004292312 likely pathogenic Autosomal recessive polycystic kidney disease 2023-08-25 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1708331). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15698423). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 3178 of the PKHD1 protein (p.Gly3178Cys).

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