ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)

gnomAD frequency: 0.00008  dbSNP: rs778830075
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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 RCV002141975 SCV002420088 likely benign Arterial tortuosity syndrome 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671652 SCV005164630 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-05-12 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 RCV003895828 SCV004713367 likely benign SLC2A10-related disorder 2021-08-20 no assertion criteria provided 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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