ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)

gnomAD frequency: 0.00001  dbSNP: rs148041889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515947 SCV003441468 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-10-25 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SETX protein function. ClinVar contains an entry for this variant (Variation ID: 157524). This missense change has been observed in individuals with clinical features of autosomal recessive spinocerebellar ataxia (PMID: 19696032, 25025039; Invitae). This variant is present in population databases (rs148041889, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2264 of the SETX protein (p.Ile2264Met).
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV000144866 SCV000172137 uncertain significance Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research

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