ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)

gnomAD frequency: 0.00001  dbSNP: rs752390475
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363363 SCV000360605 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271122 SCV000360606 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002520540 SCV003481235 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 524 of the BAG3 protein (p.Ile524Thr). This variant is present in population databases (rs752390475, gnomAD 0.0009%). 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: 298962). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Dept of Medical Biology, Uskudar University RCV003318373 SCV004022018 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, BP4
CeGaT Center for Human Genetics Tuebingen RCV003389779 SCV004134750 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing BAG3: BP4
GeneDx RCV003389779 SCV004168138 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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