ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)

dbSNP: rs730880852
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000578103 SCV000679797 uncertain significance Dilated cardiomyopathy 1S 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577986 SCV000679798 uncertain significance Hypertrophic cardiomyopathy 1 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578064 SCV000679799 uncertain significance MYH7-related skeletal myopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV003320125 SCV000679800 uncertain significance Myosin storage myopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578004 SCV000679801 uncertain significance Myopathy, myosin storage, autosomal recessive 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001041039 SCV001204633 likely pathogenic Hypertrophic cardiomyopathy 2023-06-13 criteria provided, single submitter clinical testing 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. 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). 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: 181322). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy or left ventricular non-compaction (PMID: 24691700, 28771489). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 249 of the MYH7 protein (p.Arg249Gly).

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