ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly)

dbSNP: rs749998868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179216 SCV000231427 uncertain significance not provided 2014-06-11 criteria provided, single submitter clinical testing
Invitae RCV003611504 SCV004520679 uncertain significance Autosomal recessive polycystic kidney disease 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3100 of the PKHD1 protein (p.Glu3100Gly). This variant is present in population databases (rs749998868, gnomAD 0.003%). This missense change has been observed in individual(s) with polycystic kidney disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 198016). 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 with a positive predictive value of 95%. 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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