ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)

gnomAD frequency: 0.00012  dbSNP: rs376709130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367037 SCV000464078 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga) RCV000596174 SCV000702743 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000367037 SCV001007010 likely benign Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922578 SCV004743970 likely benign PKHD1-related condition 2021-05-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000367037 SCV001459372 uncertain significance Autosomal recessive polycystic kidney disease 2017-08-09 no assertion criteria provided clinical testing

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