Submissions for variant NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)

gnomAD frequency: 0.00074  dbSNP: rs148575027

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000362182	SCV000430613	uncertain significance	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV000676634	SCV001068906	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676634	SCV001152248	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	LRPPRC: BP4
Mayo Clinic Laboratories, Mayo Clinic	RCV000676634	SCV000802426	likely benign	not provided	2017-07-31	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000362182	SCV001458045	likely benign	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2020-06-06	no assertion criteria provided	clinical testing