ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp)

gnomAD frequency: 0.00002  dbSNP: rs757796461
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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 RCV001223085 SCV001395218 uncertain significance Myoclonic dystonia 11 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 343 of the SGCE protein (p.Arg343Trp). This variant is present in population databases (rs757796461, gnomAD 0.007%). This missense change has been observed in individual(s) with isolated cervical dystonia (PMID: 38845987). ClinVar contains an entry for this variant (Variation ID: 951224). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SGCE protein function with a positive predictive value of 80%. 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.
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV001223085 SCV002553220 uncertain significance Myoclonic dystonia 11 2022-03-01 criteria provided, single submitter clinical testing
GeneDx RCV004761997 SCV005372610 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign in association with dystonia to our knowledge; This variant is associated with the following publications: (PMID: 27694994)

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