Submissions for variant NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)

gnomAD frequency: 0.00006  dbSNP: rs753324965

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001800009	SCV002044076	uncertain significance	not provided	2021-12-27	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp	RCV001800009	SCV002437704	benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343860	SCV002652706	likely benign	Cardiovascular phenotype	2024-06-04	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.
New York Genome Center	RCV002468316	SCV002764413	uncertain significance	Hypoalphalipoproteinemia, primary, 1; Tangier disease	2021-10-19	criteria provided, single submitter	clinical testing