ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.644C>T (p.Thr215Ile)

dbSNP: rs1892948780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039334 SCV001202861 likely pathogenic Hypertrophic cardiomyopathy 2023-08-04 criteria provided, single submitter clinical testing This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 MYH7 protein function. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 215 of the MYH7 protein (p.Thr215Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MYH7-related conditions (PMID: 21520333, 34213952). ClinVar contains an entry for this variant (Variation ID: 837897).
Klaassen Lab, Charite University Medicine Berlin RCV002067719 SCV002495743 likely pathogenic Primary dilated cardiomyopathy; Myocarditis criteria provided, single submitter research

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