ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)

gnomAD frequency: 0.00007  dbSNP: rs142608481
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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) RCV000299928 SCV000337211 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000299928 SCV000928162 uncertain significance not provided 2019-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579057 SCV001806449 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002518936 SCV003477030 uncertain significance Autosomal recessive polycystic kidney disease 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 526 of the PKHD1 protein (p.Ile526Val). This variant is present in population databases (rs142608481, 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: 284549). 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.

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