ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)

gnomAD frequency: 0.00024  dbSNP: rs139117495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043347 SCV001207084 likely benign Arterial tortuosity syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001570651 SCV001794983 uncertain significance not provided 2023-09-12 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 as pathogenic or benign to our knowledge
Ambry Genetics RCV002416356 SCV002727109 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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