ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)

gnomAD frequency: 0.00002  dbSNP: rs376357016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000754718 SCV000882602 likely pathogenic Myopathy, proximal, and ophthalmoplegia 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000754718 SCV002164440 uncertain significance Myopathy, proximal, and ophthalmoplegia 2023-01-09 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 MYH2 protein function. ClinVar contains an entry for this variant (Variation ID: 617568). This variant has not been reported in the literature in individuals affected with MYH2-related conditions. This variant is present in population databases (rs376357016, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1154 of the MYH2 protein (p.Glu1154Lys).
Revvity Omics, Revvity Omics RCV000754718 SCV003809476 uncertain significance Myopathy, proximal, and ophthalmoplegia 2019-11-05 criteria provided, single submitter clinical testing

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