ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7590T>A (p.Pro2530=)

gnomAD frequency: 0.00001  dbSNP: rs1374204163
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544597 SCV000645290 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395413 SCV002675223 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.
Genome-Nilou Lab RCV003233737 SCV003931677 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233738 SCV003931688 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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