ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)

gnomAD frequency: 0.00001  dbSNP: rs1424014997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942245 SCV002228234 pathogenic Amyotrophic lateral sclerosis type 1 2021-11-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 150 of the SOD1 protein (p.Ile150Thr). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SOD1 function (PMID: 20404329, 23280792, 23872456). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SOD1 protein function. This missense change has been observed in individuals with autosomal dominant amyotrophic lateral sclerosis (PMID: 7887412, 28709720). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.002%).
Athena Diagnostics RCV002473336 SCV002771831 pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls; therefore, The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant appears to segregate with disease in at least one family. This variant is also referred to as p.Ile149Thr in published literature. Computational tools predict that this variant is damaging.
Mayo Clinic Laboratories, Mayo Clinic RCV002473336 SCV004225360 likely pathogenic not provided 2022-02-08 criteria provided, single submitter clinical testing PP1, PP3, PM1, PM2, PS4_moderate

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