ClinVar Miner

Submissions for variant NM_001231.5(CASQ1):c.574G>C (p.Glu192Gln)

gnomAD frequency: 0.00009  dbSNP: rs182841353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889189 SCV002163179 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 192 of the CASQ1 protein (p.Glu192Gln). This variant is present in population databases (rs182841353, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CASQ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1389336). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CASQ1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003348580 SCV004067545 uncertain significance Inborn genetic diseases 2023-08-22 criteria provided, single submitter clinical testing The c.574G>C (p.E192Q) alteration is located in exon 4 (coding exon 4) of the CASQ1 gene. This alteration results from a G to C substitution at nucleotide position 574, causing the glutamic acid (E) at amino acid position 192 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492693 SCV004234947 uncertain significance Myopathy due to calsequestrin and SERCA1 protein overload 2023-05-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001889189 SCV005408358 uncertain significance not provided 2024-07-30 criteria provided, single submitter clinical testing BS1

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