Submissions for variant NM_000384.3(APOB):c.2313G>A (p.Pro771=)

gnomAD frequency: 0.00009  dbSNP: rs552986140

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001838191	SCV001003035	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-10-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001560754	SCV001783225	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002442594	SCV002735357	likely benign	Cardiovascular phenotype	2022-02-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001560754	SCV004221815	likely benign	not provided	2023-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001560754	SCV005432607	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	APOB: BP4, BP7
GENinCode PLC	RCV004820113	SCV005441549	likely benign	Familial hypercholesterolemia	2023-10-02	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).