ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)

dbSNP: rs773136605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664542 SCV000788522 likely pathogenic Autosomal recessive polycystic kidney disease 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV000664542 SCV004324017 pathogenic Autosomal recessive polycystic kidney disease 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 549956). A different variant (c.2854G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 16133180, 27225849). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 952 of the PKHD1 protein (p.Gly952Arg).

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