ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.*273_*276del

dbSNP: rs906761540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002018546 SCV002303867 uncertain significance Amyotrophic lateral sclerosis type 1 2022-07-19 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the SOD1 gene. It does not change the encoded amino acid sequence of the SOD1 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individual(s) with motor neuron disease (PMID: 9462467). This variant is also known as del nt.816_819. ClinVar contains an entry for this variant (Variation ID: 1514037). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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