ClinVar Miner

Submissions for variant NM_001231.5(CASQ1):c.1176TGA[2] (p.Asp395_Asp396del)

dbSNP: rs754288969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480771 SCV000572512 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing The c.1182_1187delTGATGA variant in the CASQ1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant results in an in-frame deletion of Aspartic Acid 395 and 396, denoted p.Asp395_Asp396del. The c.1182_1187delTGATGA variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The residues removed by this variant are conserved across species. We interpret c.1182_1187delTGATGA as a variant of uncertain significance.
Revvity Omics, Revvity RCV003492072 SCV004234946 uncertain significance Myopathy due to calsequestrin and SERCA1 protein overload 2023-07-26 criteria provided, single submitter clinical testing

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