ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.8C>T (p.Thr3Ile) (rs28941475)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414273 SCV000491150 likely pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing The T3I variant in the SETX gene has been reported previously in multiple families in association with hereditary motor neuropathies (Chen et al., 2004; Arning et al., 2013; Drew et al., 2015). The T3I variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T3I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The T3I variant is a strong candidate for a pathogenic variant.
OMIM RCV000002380 SCV000022538 pathogenic Amyotrophic lateral sclerosis type 4 2004-06-01 no assertion criteria provided literature only
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000002380 SCV000188713 pathogenic Amyotrophic lateral sclerosis type 4 no assertion criteria provided not provided Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789614 SCV000928979 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only

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