ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del) (rs397515972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035502 SCV000059152 likely pathogenic Hypertrophic cardiomyopathy 2012-02-21 criteria provided, single submitter clinical testing The Glu843_Arg845del variant (MYBPC3) has not been reported in the literature no r previously identified in > 3300 probands (>2000 Caucasian) tested by our labor atory. This low frequency supports a pathogenic role. This variant is predicted to cause an in-frame deletion removing a lysine (Lys), methionine (M), and argin ine (Arg) from positions 843-845. These three amino acids are all highly conserv ed in mammals and evolutionarily distant species, and the loss of multiple conse rved amino acids is likely to have a severe effect on the protein. In summary, d ue to the rarity of the variant and the severity of the change, the Glu843_Arg84 5del variant is likely to be pathogenic.

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