ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro)

dbSNP: rs397516090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753442 SCV002007507 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in a patient with hypertrophic cardiomyopathy (Walsh et al., 2017); This variant is associated with the following publications: (PMID: 27532257)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798094 SCV002042245 uncertain significance Cardiomyopathy 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV003586134 SCV004296291 uncertain significance Hypertrophic cardiomyopathy 2023-04-09 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 MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 42824). This missense change has been observed in individual(s) with clinical features of hypertrophic cardiomyopathy (PMID: 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 378 of the MYH7 protein (p.Thr378Pro).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035700 SCV000059351 uncertain significance not specified 2009-12-23 no assertion criteria provided clinical testing

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