ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.510C>T (p.Ala170=)

gnomAD frequency: 0.00065  dbSNP: rs147061424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594544 SCV000707417 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001455111 SCV001658864 likely benign Sitosterolemia 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341530 SCV002642543 likely benign Cardiovascular phenotype 2019-08-13 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 RCV003962711 SCV004781738 likely benign ABCG5-related disorder 2020-04-10 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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