ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002923956 SCV003275992 likely benign not provided 2023-09-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002923956 SCV003917002 benign not provided 2023-01-01 criteria provided, single submitter clinical testing FAT2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003936443 SCV004752311 likely benign FAT2-related disorder 2023-03-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Molecular Genetics, Royal Melbourne Hospital RCV003994476 SCV004812465 likely benign Spinocerebellar ataxia 45 2023-05-04 criteria provided, single submitter clinical testing European non-finish population allele frequency is 0.114% (rs762865768, 202/251318 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1

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