ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.182A>C (p.His61Pro)

gnomAD frequency: 0.00003  dbSNP: rs372276337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822941 SCV000963769 uncertain significance Myofibrillar myopathy 3 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs372276337, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 61 of the MYOT protein (p.His61Pro). ClinVar contains an entry for this variant (Variation ID: 664775). 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 not expected to disrupt MYOT protein function.
Athena Diagnostics RCV002473155 SCV002770886 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000822941 SCV003810971 uncertain significance Myofibrillar myopathy 3 2020-12-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489917 SCV004242119 uncertain significance not specified 2023-12-10 criteria provided, single submitter clinical testing

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