ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr)

gnomAD frequency: 0.00004  dbSNP: rs746203433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549142 SCV000644157 likely benign Arterial tortuosity syndrome 2024-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001584292 SCV001819074 likely benign not provided 2019-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024041 SCV004949253 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-09-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV001584292 SCV005209914 likely benign not provided criteria provided, single submitter not provided

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