ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)

gnomAD frequency: 0.00001  dbSNP: rs770678896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002329718 SCV002633446 uncertain significance Cardiovascular phenotype 2024-12-14 criteria provided, single submitter clinical testing The p.C151Y variant (also known as c.452G>A), located in coding exon 2 of the BAG3 gene, results from a G to A substitution at nucleotide position 452. The cysteine at codon 151 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506752 SCV002814958 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002506752 SCV003462077 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-06-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs770678896, gnomAD 0.005%). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1299827). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 151 of the BAG3 protein (p.Cys151Tyr).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730251 SCV001978211 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730251 SCV001980476 uncertain significance not provided no assertion criteria provided clinical testing

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