Submissions for variant NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)

gnomAD frequency: 0.00031  dbSNP: rs187652566

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490356	SCV000267201	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV001166856	SCV001329274	benign	Hypoalphalipoproteinemia, primary, 1	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). 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.
Illumina Laboratory Services, Illumina	RCV001166857	SCV001329275	benign	Tangier disease	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). 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.
GeneDx	RCV001753634	SCV001986260	uncertain significance	not provided	2019-05-28	criteria provided, single submitter	clinical testing	Has been reported in individuals with increased HDL-cholesterol and decreased total cholesterol levels (Hu et al., 2009; Service et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20800056, 24497850, 19743957, 32041611)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001753634	SCV002145911	benign	not provided	2024-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020581	SCV003862521	likely benign	Cardiovascular phenotype	2023-02-21	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.