ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.95T>C (p.Val32Ala)

dbSNP: rs1428716759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095392 SCV001251047 likely pathogenic Amyotrophic lateral sclerosis type 1 2020-03-31 criteria provided, single submitter research
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196130 SCV001366634 uncertain significance Spastic tetraplegia and axial hypotonia, progressive 2019-06-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.
GeneDx RCV002291718 SCV002584265 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing Observed in several unrelated individuals with ALS, but familial segregation information and additional clinical information was not provided (Dangoumau et al., 2014; Tunca et al., 2020); Published functional studies suggest this variant results in formation of aggregates, however additional studies are needed to validate the functional effect of this variant in vivo (Dangoumau et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25798606, 28680046, 24611504, 34426522, 33670299, 29709651, 26605782, 33655618, 32579787, 35328090, 23954173)

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