ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys)

dbSNP: rs776275341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205421 SCV000261751 uncertain significance Autosomal recessive polycystic kidney disease 2022-01-04 criteria provided, single submitter clinical testing 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. 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: 220863). This missense change has been observed in individual(s) with polycystic kidney disease (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1863 of the PKHD1 protein (p.Gly1863Cys).
Eurofins Ntd Llc (ga) RCV000733553 SCV000861632 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000205421 SCV002078074 uncertain significance Autosomal recessive polycystic kidney disease 2021-06-03 no assertion criteria provided clinical testing

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