ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)

dbSNP: rs367543053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707184 SCV000836269 uncertain significance Hypertrophic cardiomyopathy 2018-04-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). Two additional variants at this codon that result in the same elongation of the MYH7 protein (p.*1936Tyr*ext31 and p.*1936Leu*ext31) have been reported in individuals affected with MYH7-related myopathy (PMID: 27387980, 28927399). This suggests that variants that disrupt this residue are likely to be causative of disease. 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. This variant has been observed to segregate with congenital fiber type disproportion in a family (PMID: 21288719). ClinVar contains an entry for this variant (Variation ID: 42097). This sequence change disrupts the translational stop signal of the MYH7 mRNA. It is expected to extend the length of the MYH7 protein by 31 additional amino acid residues.
GeneReviews RCV000034923 SCV000058530 not provided Congenital myopathy with fiber type disproportion no assertion provided literature only
OMIM RCV003320038 SCV003841180 pathogenic Myosin storage myopathy 2011-04-01 no assertion criteria provided literature only

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