ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)

gnomAD frequency: 0.00001  dbSNP: rs770597316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515514 SCV000883218 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. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29053796).
OMIM RCV000515514 SCV000611607 pathogenic Spinocerebellar ataxia 45 2017-11-16 no assertion criteria provided literature only
O&I group, Department of Genetics, University Medical Center of Groningen RCV000515514 SCV001960841 pathogenic Spinocerebellar ataxia 45 2021-07-22 no assertion criteria provided research

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