ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu)

gnomAD frequency: 0.00020  dbSNP: rs139838478
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597087 SCV000707040 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161851 SCV001323758 uncertain significance Autosomal recessive polycystic kidney disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002476320 SCV002787249 uncertain significance Polycystic kidney disease 4 2022-04-21 criteria provided, single submitter clinical testing
Invitae RCV001161851 SCV003275026 uncertain significance Autosomal recessive polycystic kidney disease 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1284 of the PKHD1 protein (p.Pro1284Leu). This variant is present in population databases (rs139838478, gnomAD 0.02%). 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: 500894). 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.
Revvity Omics, Revvity RCV002476320 SCV003808429 uncertain significance Polycystic kidney disease 4 2021-08-20 criteria provided, single submitter clinical testing

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