Submissions for variant NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)

gnomAD frequency: 0.00066  dbSNP: rs115507225

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000676635	SCV000251671	uncertain significance	not provided	2022-09-26	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae	RCV000676635	SCV000962827	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676635	SCV001249224	uncertain significance	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137663	SCV001297629	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.
PreventionGenetics, part of Exact Sciences	RCV003977543	SCV004792563	likely benign	LRPPRC-related condition	2022-08-21	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).
Mayo Clinic Laboratories, Mayo Clinic	RCV000676635	SCV000802428	uncertain significance	not provided	2016-02-24	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001137663	SCV001452502	uncertain significance	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000676635	SCV002035094	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676635	SCV002037752	uncertain significance	not provided		no assertion criteria provided	clinical testing