ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2563_2656del (p.Glu855fs)

dbSNP: rs1892625481
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV001263484 SCV001441523 likely pathogenic Hypertrophic cardiomyopathy; Biventricular noncompaction cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing We observed a c.2563_2656del (p.E855del) genetic variant in a 26-y.o. proband, diagnosed with ventricular non-compaction (bi-ventricular form) and hypertrophic cardiomyopathy. To our knowledge, p.E855del variant was not previously reported in GnomAD and ExAC databases. Online bioinformatic resources classify p.E855del variant as probably pathogenic. In the absence of family screening and functional studies the p.E855del variant (according to ACMG Guidelines) could be classified as a variant of unknown clinical significance. However, the p.E855del variant is located within the mutation cluster described by Walsh et al. (2017) in patients with hypertrophic cardiomyopathy. Due to the fact that our patient was also diagnosed with hypertrophic cardiomyopathy, we assume that the p.E855del variant could be classified as likely pathogenic because of its location in a mutation cluster.

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