ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)

gnomAD frequency: 0.00102  dbSNP: rs146515622
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000676636 SCV000331379 uncertain significance not provided 2015-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764414 SCV000895471 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000676636 SCV001054143 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000764414 SCV001300075 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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.
Centogene AG - the Rare Disease Company RCV000764414 SCV002598527 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-01-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000764414 SCV003812766 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676636 SCV004146013 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LRPPRC: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000676636 SCV000802429 uncertain significance not provided 2016-03-09 no assertion criteria provided clinical testing
Natera, Inc. RCV000764414 SCV001458049 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-11-11 no assertion criteria provided clinical testing

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