ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His) (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, Partners HealthCare 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,; 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 2019-05-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1138 of the MYOM1 protein (p.Arg1138His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs148782330, ExAC 0.2%). This variant has not been reported in the literature in individuals with MYOM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 229024). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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