ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)

dbSNP: rs1568811423
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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 RCV000699099 SCV000827794 uncertain significance Amyotrophic lateral sclerosis type 1 2022-05-03 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects SOD1 function (PMID: 19483195, 19635794, 25792239). ClinVar contains an entry for this variant (Variation ID: 576569). This variant is also known as p.E133del. This variant has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 8938700, 19483195, 22292843, 23881933). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant is not present in population databases (gnomAD no frequency). This variant, c.400_402del, results in the deletion of 1 amino acid(s) of the SOD1 protein (p.Glu134del), but otherwise preserves the integrity of the reading frame. 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.

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