ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)

gnomAD frequency: 0.00001  dbSNP: rs758082383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486661 SCV000569176 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CASQ2 gene. The K205N variant has been reported in one patient with sudden cardiac death (Hertz et al., 2016); however, segregation data and functional studies were not provided. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The K205N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Labcorp Genetics (formerly Invitae), Labcorp RCV002526573 SCV001556959 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 205 of the CASQ2 protein (p.Lys205Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs758082383, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002481514 SCV002791883 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-09-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147480 SCV003835252 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2022-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003147480 SCV004048927 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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