Submissions for variant NM_000384.3(APOB):c.10740C>T (p.Asn3580=)

dbSNP: rs150312765

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589240	SCV000696658	benign	not provided	2017-01-04	criteria provided, single submitter	clinical testing	Variant summary: The APOB c.10740C>T (p.Asn3580Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 17/121204 control chromosomes at a frequency of 0.0001403, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic APOB variant (0.0000313), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Robarts Research Institute, Western University	RCV000660659	SCV000782793	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Invitae	RCV001838006	SCV001003899	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002420561	SCV002721687	benign	Cardiovascular phenotype	2021-11-10	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics, Academic Medical Center	RCV001701053	SCV001920286	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589240	SCV001969209	likely benign	not provided		no assertion criteria provided	clinical testing