ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser)

dbSNP: rs1358906875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306216 SCV001495577 uncertain significance Autosomal recessive polycystic kidney disease 2022-02-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1008818). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2562 of the PKHD1 protein (p.Gly2562Ser). 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. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Natera, Inc. RCV001306216 SCV002078017 uncertain significance Autosomal recessive polycystic kidney disease 2020-02-10 no assertion criteria provided clinical testing

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