ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003628635 SCV004464603 uncertain significance Amyotrophic lateral sclerosis type 1 2023-08-15 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, c.443_445del, results in the deletion of 1 amino acid(s) of the SOD1 protein (p.Gly148del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SOD1-related conditions.

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