ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys)

dbSNP: rs1440253606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213106 SCV001384723 uncertain significance Autosomal recessive polycystic kidney disease 2022-08-16 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 not expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 943008). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 2120 of the PKHD1 protein (p.Trp2120Cys).
Natera, Inc. RCV001213106 SCV002078050 uncertain significance Autosomal recessive polycystic kidney disease 2021-07-07 no assertion criteria provided clinical testing

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