ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.880C>T (p.Arg294Cys)

dbSNP: rs144585878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306841 SCV001496225 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 294 of the BAG3 protein (p.Arg294Cys). This variant is present in population databases (rs144585878, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1009365). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BAG3 protein function. 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 RCV002375381 SCV002687964 uncertain significance Cardiovascular phenotype 2021-11-22 criteria provided, single submitter clinical testing The p.R294C variant (also known as c.880C>T), located in coding exon 3 of the BAG3 gene, results from a C to T substitution at nucleotide position 880. The arginine at codon 294 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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