ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)

gnomAD frequency: 0.00017  dbSNP: rs200679577
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000372441 SCV000345565 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331367 SCV000464063 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 RCV000331367 SCV001001858 likely benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000372441 SCV004163596 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PKHD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003949957 SCV004759539 likely benign PKHD1-related condition 2019-11-15 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. RCV000331367 SCV001455252 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-15 no assertion criteria provided clinical testing

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