ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)

gnomAD frequency: 0.00016  dbSNP: rs200497761
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348938 SCV000464109 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) RCV000596106 SCV000707781 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000348938 SCV000933832 likely benign Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596106 SCV001154776 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336940 SCV001530474 uncertain significance Polycystic kidney disease 4 2018-12-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003418076 SCV004116017 uncertain significance PKHD1-related disorder 2023-08-22 criteria provided, single submitter clinical testing The PKHD1 c.2006G>A variant is predicted to result in the amino acid substitution p.Arg669His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51918008-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. RCV001824136 SCV001463507 uncertain significance Hereditary disease 2020-05-01 no assertion criteria provided clinical testing

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