ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) (rs367543052)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628918 SCV000749826 pathogenic Hypertrophic cardiomyopathy 2017-08-31 criteria provided, single submitter clinical testing This variant, c.5186_5188delAGA, results in the deletion of 1 amino acid(s) of the MYH7 protein (p.Lys1729del), 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 segregate with Laing distal myopathy in several large families and is considered a founder mutation among individuals of Mediterranean ancestry (PMID: 20733148, 25574480, 15322983, 12975303, 21395566). ClinVar contains an entry for this variant (Variation ID: 42096). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company RCV000035952 SCV001426516 pathogenic Myopathy, distal, 1 criteria provided, single submitter clinical testing
OMIM RCV000035952 SCV000035448 pathogenic Myopathy, distal, 1 2012-05-01 no assertion criteria provided literature only
GeneReviews RCV000034922 SCV000058529 pathologic Congenital myopathy with fiber type disproportion 2013-04-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844688 SCV000059604 pathogenic Neuromuscular disease 2014-04-04 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneReviews RCV000035952 SCV000223128 pathogenic Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only

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