ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)

gnomAD frequency: 0.00038  dbSNP: rs143737660
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372328 SCV000464044 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-12 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.
Invitae RCV000372328 SCV000557656 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591117 SCV000700539 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781720 SCV000919987 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449936 SCV001653387 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001449936 SCV001736800 likely benign Polycystic kidney disease 4 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000591117 SCV001781710 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15805161)
Natera, Inc. RCV000372328 SCV002077948 likely benign Autosomal recessive polycystic kidney disease 2017-10-17 no assertion criteria provided clinical testing

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