ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) (rs72554069)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037131 SCV000060788 likely benign not specified 2021-01-26 criteria provided, single submitter clinical testing Thep.Asp378[5] variant in CASQ2 is classified as likely benign because it has been identified in 0.05% (16/30482) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is a deletion of one amino acid at position 383 which occurs within a repetitive region of 6 amino acids and is not predicted to alter the protein reading-frame. ACMG/AMP Criteria applied: BS1, BP3.
Illumina Clinical Services Laboratory,Illumina RCV000375569 SCV000347669 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000375569 SCV000548688 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2020-08-26 criteria provided, single submitter clinical testing This variant, c.1147_1149delGAT, results in the deletion of 1 amino acid of the CASQ2 protein (p.Asp383del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs72554069, ExAC 0.09%). This variant has not been reported in the literature in individuals with CASQ2-related disease. ClinVar contains an entry for this variant (Variation ID: 44155). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037131 SCV000602909 uncertain significance not specified 2016-09-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769724 SCV000901145 uncertain significance Cardiomyopathy 2016-02-23 criteria provided, single submitter clinical testing

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