ClinVar Miner

Submissions for variant NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923528 SCV003273482 likely benign not provided 2024-11-24 criteria provided, single submitter clinical testing
GeneDx RCV002923528 SCV003840542 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published in association with dyslipidemia to our knowledge; This variant is associated with the following publications: (PMID: 24497850)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017955 SCV004848472 likely benign not specified 2020-09-04 criteria provided, single submitter clinical testing The p.Pro250Leu variant in ABCA1 is classified as likely benign due to a lack of conservation across species. Over 10 mammals carry a leucine (Leu) at this position despite high nearby amino acid conservation. In addition, computational prediction tools predict that this variant does not impact the protein. It has been identified in 0.02% (5/25124) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4_Strong.

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