ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) (rs587779394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000132756 SCV000223126 pathogenic Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only
Invitae RCV000819391 SCV000960046 uncertain significance Hypertrophic cardiomyopathy 2018-11-19 criteria provided, single submitter clinical testing This variant, c.5005_5007delGAG, 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 (ExAC no frequency). This variant has been observed in a family affected with distal myopathy (PMID: 24664454). ClinVar contains an entry for this variant (Variation ID: 143216). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
Neurogenetics Laboratory,Royal Perth Hospital RCV000132756 SCV000119907 pathogenic Myopathy, distal, 1 2013-01-01 no assertion criteria provided clinical testing

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