ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4741_4743GAG[1] (p.Glu1582del) (rs1555336467)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536229 SCV000623722 likely pathogenic Hypertrophic cardiomyopathy 2018-05-17 criteria provided, single submitter clinical testing This variant, c.4744_4746delGAG, results in the deletion of 1 amino acid of the MYH7 protein (p.Glu1582del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual with a clinical diagnosis of rigid spine muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 454380). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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