ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)

dbSNP: rs1039417117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957009 SCV002252013 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-09-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SETX-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu2548*) in the SETX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 130 amino acid(s) of the SETX protein.
Ambry Genetics RCV004044536 SCV004947879 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733434 SCV005346979 uncertain significance SETX-related disorder 2024-03-08 no assertion criteria provided clinical testing The SETX c.7641dupT variant is predicted to result in premature protein termination (p.Glu2548*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/). Note that this variant is located in the last exon of this gene, and therefore may or may not undergo nonsense-mediated decay. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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