ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) (rs794728740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182731 SCV000235115 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing p.Glu1724Lys (E1724K) GAG>AAG: c.5170 G>A in exon 37 of the RYR2 gene (NM_001035.2). Postma et al (2005) identified the Glu1724Lys mutation in one female patient diagnosed with CPVT in childhood and this mutation was also identified in this patient's affected daughter. The Glu1724Lys mutation was absent from 400 control alleles from individuals of Northern European ancestry (Postma et al, 2005). In addition, the Glu1724Lys mutation was not detected in up to 600 alleles from control individuals of Caucasian and African American ancestry tested at GeneDx, indicating it is not a common benign variant in these populations. Glu1724Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine. The closest pathogenic mutation reported in association with CPVT is Glu1837Lys (Medeiros-Domingo et al, 2009). However, other genetic and environmental factors influence disease expression and severity, and some mutation carriers may never become symptomatic. The variant is found in CPVT panel(s).

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