ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2107G>A (p.Asp703Asn)

dbSNP: rs2128203385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949634 SCV002238396 pathogenic Autosomal recessive polycystic kidney disease 2022-09-14 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: 1458985). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 12506140). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 703 of the PKHD1 protein (p.Asp703Asn).
Baylor Genetics RCV004571747 SCV005056296 pathogenic Polycystic kidney disease 4 2024-03-07 criteria provided, single submitter clinical testing
GeneDx RCV004785416 SCV005401238 likely pathogenic not provided 2024-05-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12506140, 35065907, 34327338)

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