ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.290A>T (p.Asp97Val)

dbSNP: 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 Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 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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