ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)

gnomAD frequency: 0.00004  dbSNP: rs557361225
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698687 SCV000827367 uncertain significance Autosomal recessive polycystic kidney disease 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 48 of the PKHD1 protein (p.Gly48Asp). This variant is present in population databases (rs557361225, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 576238). 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. 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.
Eurofins Ntd Llc (ga) RCV000729487 SCV000857155 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477594 SCV000897306 uncertain significance Polycystic kidney disease 4 2022-03-17 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003420239 SCV004109500 uncertain significance PKHD1-related condition 2023-03-14 criteria provided, single submitter clinical testing The PKHD1 c.143G>A variant is predicted to result in the amino acid substitution p.Gly48Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51947328-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV000698687 SCV001453469 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-05 no assertion criteria provided clinical testing

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