ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)

gnomAD frequency: 0.00001  dbSNP: rs201335279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515512 SCV000883164 uncertain significance Spinocerebellar ataxia 45 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Spinocerebellar ataxia 45, autosomal dominant. The following ACMG Tag(s) were applied: PM2-Supporting => PM2 downgraded in strength to Supporting. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product (
OMIM RCV000515512 SCV000611608 pathogenic Spinocerebellar ataxia 45 2017-11-16 no assertion criteria provided literature only

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