ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)

dbSNP: rs587779394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819391 SCV000960046 uncertain significance Hypertrophic cardiomyopathy 2023-12-27 criteria provided, single submitter clinical testing This variant, c.5005_5007del, results in the deletion of 1 amino acid(s) of the MYH7 protein (p.Glu1669del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with distal myopathy (PMID: 24664454). ClinVar contains an entry for this variant (Variation ID: 143216). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV003133146 SCV003817746 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing
Neurogenetics Laboratory, Royal Perth Hospital RCV000132756 SCV000119907 pathogenic MYH7-related skeletal myopathy 2013-01-01 no assertion criteria provided clinical testing

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