ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1285A>G (p.Ile429Val)

dbSNP: rs747053403
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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 RCV000992928 SCV001145532 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198874 SCV001369869 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-04-18 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Genome-Nilou Lab RCV001198874 SCV003931554 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233888 SCV003931556 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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