ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)

dbSNP: rs764541704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992951 SCV001145568 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing
Invitae RCV003769315 SCV004568841 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-09-25 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) performed at Invitae indicates that this missense variant is expected to disrupt SETX protein function. ClinVar contains an entry for this variant (Variation ID: 805428). This variant has not been reported in the literature in individuals affected with SETX-related conditions. This variant is present in population databases (rs764541704, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2228 of the SETX protein (p.Ser2228Leu).

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