ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser)

gnomAD frequency: 0.00001  dbSNP: rs369941024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309173 SCV001498663 uncertain significance Autosomal recessive polycystic kidney disease 2022-11-15 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: 1011386). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs369941024, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2797 of the PKHD1 protein (p.Asn2797Ser).
Natera, Inc. RCV001309173 SCV002077980 uncertain significance Autosomal recessive polycystic kidney disease 2020-05-18 no assertion criteria provided clinical testing

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