ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.146A>G (p.Lys49Arg)

gnomAD frequency: 0.00004  dbSNP: rs142551293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287948 SCV001474718 uncertain significance not provided 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001287948 SCV002567510 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003166620 SCV003904962 uncertain significance Inborn genetic diseases 2023-03-10 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003234025 SCV003931598 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234026 SCV003931601 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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