Submissions for variant NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)

gnomAD frequency: 0.00825  dbSNP: rs115993634

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126656	SCV000170165	benign	not specified	2013-11-02	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.
Invitae	RCV000676633	SCV001099734	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139787	SCV001299973	benign	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000676633	SCV002498550	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	LRPPRC: BP4, BP7, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676633	SCV000802425	benign	not provided	2016-02-26	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001139787	SCV002076558	likely benign	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2019-12-04	no assertion criteria provided	clinical testing