ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1495_1497GAG[1] (p.Glu500del) (rs1555338254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629010 SCV000749920 uncertain significance Hypertrophic cardiomyopathy 2018-02-08 criteria provided, single submitter clinical testing This variant, c.1498_1500delGAG, results in the deletion of 1 amino acid(s) of the MYH7 protein (p.Glu500del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. A missense substitution at this codon (p.Glu500Ala) has been determined to be pathogenic (PMID: 12820698,27532257). This suggests that the glutamic acid residue is critical for MYH7 protein function and that other variants affecting this position may also be pathogenic. 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.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000754867 SCV000882701 likely pathogenic Myosin storage myopathy 2019-02-08 no assertion criteria provided research

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