ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His)

gnomAD frequency: 0.00008  dbSNP: rs148782330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219839 SCV000272172 uncertain significance not specified 2016-03-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1138His va riant in MYOM1 has not been previously reported in individuals with cardiomyopat hy, but has been identified in 0.2% (14/8600) of East Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14878 2330).Computational prediction tools and conservation analysis do not provide st rong support for or against an impact to the protein. In summary, while the clin ical significance of the p.Arg1138His variant is uncertain, its frequency sugges ts that it is more likely to be benign.
Invitae RCV001222401 SCV001394499 uncertain significance Hypertrophic cardiomyopathy 2023-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1138 of the MYOM1 protein (p.Arg1138His). This variant is present in population databases (rs148782330, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 229024). 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 MYOM1 protein function. 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.

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