ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) (rs4494798)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117557 SCV000170169 benign not specified 2012-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000336341 SCV000430607 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000676632 SCV001721189 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000336341 SCV001761809 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117557 SCV000151775 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676632 SCV000802424 benign not provided 2016-02-29 no assertion criteria provided clinical testing
Natera, Inc. RCV000336341 SCV001462534 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-16 no assertion criteria provided clinical testing

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