ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003147194 SCV003833960 uncertain significance Spinocerebellar ataxia 45 2022-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246141 SCV003991972 likely benign not specified 2023-06-12 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.

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