Submissions for variant NM_001232.4(CASQ2):c.213del (p.Gln71fs)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170914	SCV000223472	pathogenic	not provided	2012-04-12	criteria provided, single submitter	clinical testing	The c.213delA mutation in the CASQ2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This mutation causes a shift in reading frame beginning with codon Glutamine 71, changing it to a Histidine, and creates a premature stop codon at position 2 of the new reading frame. This mutation is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. A heterozygous truncating mutation (Arg33Stop) has been reported in the CASQ2 gene in one patient with CPVT (Postma A et al., 2002). This single mutation was also identified in three normal relatives and two others who demonstrated ventricular arrhythmia during exercise (Postma A et al., 2002). This finding led the authors to hypothesize that this nonsense mutation may represent a novel autosomal dominant CASQ2 mutation or that a second mutation was present but not identified. Several homozygous or compound heterozygous frameshift mutations have been reported in association with CPVT. In summary, as CPVT due to mutations in the CASQ2 gene is an autosomal recessive disease, it is expected that an affected individual would harbor mutations in the CASQ2 gene on both alleles.
Fulgent Genetics, Fulgent Genetics	RCV002492705	SCV002788743	likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2	2021-08-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003338442	SCV004048975	likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000170914	SCV005894504	likely pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CASQ2: PVS1:Strong, PM2, PS4:Supporting

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