Submissions for variant NM_000384.3(APOB):c.914A>G (p.Lys305Arg)

gnomAD frequency: 0.00029  dbSNP: rs199937544

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001838148	SCV001412023	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001815476	SCV002063835	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001815476	SCV002588438	uncertain significance	not provided	2022-04-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002370033	SCV002684817	likely benign	Cardiovascular phenotype	2022-01-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.