ClinVar Miner

Submissions for variant NM_000454.4(SOD1):c.290A>T (p.Asp97Val) (rs1555836803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Columbia University Medical Center,Columbia University RCV000853537 SCV000994920 likely pathogenic Amyotrophic lateral sclerosis type 1 2014-03-20 criteria provided, single submitter clinical testing It is noteworthy that compound heterozygous variants D90A and D96N (HGVS: new numbering, D97N)located in the same protein domain have been previously described in a recessive ALS family (Hand et al. Ann Neurol 2001:49;267-271) suggesting that the D97V variant is likely pathogenic and associated with autosomal recessive ALS. The D97V variant was detected through WES analysis in the blood leukocytes of a healthy 73-year-old male control subject with no family history of ALS (four older siblings with no known neuromuscular disorders).

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