ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2862G>A (p.Thr954=)

gnomAD frequency: 0.00005  dbSNP: rs149610510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518240 SCV000615169 uncertain significance not specified 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV001857928 SCV002188766 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438246 SCV002749819 likely benign Inborn genetic diseases 2019-07-11 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.
CeGaT Center for Human Genetics Tuebingen RCV003431058 SCV004156614 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SETX: BP4, BP7

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