ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His)

gnomAD frequency: 0.00004  dbSNP: rs201123815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176952 SCV000228738 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485152 SCV002790675 uncertain significance Polycystic kidney disease 4 2022-01-07 criteria provided, single submitter clinical testing
Invitae RCV002517706 SCV003479614 uncertain significance Autosomal recessive polycystic kidney disease 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1081 of the PKHD1 protein (p.Arg1081His). This variant is present in population databases (rs201123815, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 196190). 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 not expected to disrupt PKHD1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004020100 SCV005006790 likely benign Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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