ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.1524C>T (p.Asn508=)

gnomAD frequency: 0.00160  dbSNP: rs142239617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903429 SCV001047895 benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390890 SCV002705399 likely benign Cardiovascular phenotype 2022-05-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330991 SCV004038242 likely benign not specified 2023-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903429 SCV004158474 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ABCA1: BP4, BP7

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