ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002625524 SCV002950412 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167474 SCV003865863 uncertain significance Inborn genetic diseases 2023-01-09 criteria provided, single submitter clinical testing The c.3706G>A (p.V1236I) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a G to A substitution at nucleotide position 3706, causing the valine (V) at amino acid position 1236 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003443064 SCV004168762 uncertain significance not provided 2023-04-10 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
Mayo Clinic Laboratories, Mayo Clinic RCV003443064 SCV005410851 uncertain significance not provided 2023-10-19 criteria provided, single submitter clinical testing

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