ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5842A>G (p.Met1948Val)

gnomAD frequency: 0.00008  dbSNP: rs762267386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171884 SCV001334773 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002355133 SCV002647762 uncertain significance Inborn genetic diseases 2020-11-20 criteria provided, single submitter clinical testing The p.M1948V variant (also known as c.5842A>G), located in coding exon 12 of the SETX gene, results from an A to G substitution at nucleotide position 5842. The methionine at codon 1948 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. This alteration has been reported in a heterozygous state in two individuals with amyotrophic lateral sclerosis (ALS) (Kenna KP et al. J Med Genet, 2013 Nov;50:776-83; Andreini I et al. Amyotroph Lateral Scler Frontotemporal Degene, 2020 05;21:312-313). In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of SETX-related ALS; however, its contribution to the development of SETX-related ataxia is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559645 SCV003249986 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-22 criteria provided, single submitter clinical testing

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