ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.149del (p.Glu50fs)

gnomAD frequency: 0.00002  dbSNP: rs752237082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217686 SCV001389535 uncertain significance Amyotrophic lateral sclerosis type 1 2023-05-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 946758). 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. This variant has not been reported in the literature in individuals affected with SOD1-related conditions. This variant is present in population databases (rs752237082, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Glu50Glyfs*39) in the SOD1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SOD1 cause disease.

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