ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.421C>T (p.Leu141=)

dbSNP: rs1570831673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002534628 SCV000939759 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2018-10-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CASQ2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 141 of the CASQ2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CASQ2 protein.
Breakthrough Genomics, Breakthrough Genomics RCV004691301 SCV005186845 uncertain significance not provided criteria provided, single submitter not provided

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