ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.5747A>C (p.Glu1916Ala)

gnomAD frequency: 0.00175  dbSNP: rs114719973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002119708 SCV002390938 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346430 SCV002651636 likely benign Cardiovascular phenotype 2020-03-24 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.
PreventionGenetics, part of Exact Sciences RCV004543787 SCV004785029 likely benign ABCA1-related disorder 2019-08-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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