ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)

gnomAD frequency: 0.00001  dbSNP: rs566015884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205133 SCV001376372 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 105 of the BAG3 protein (p.Asn105Lys). This variant is present in population databases (rs566015884, gnomAD 0.003%). 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: 936352). 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 BAG3 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.
Fulgent Genetics, Fulgent Genetics RCV001205133 SCV002778488 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353206 SCV004055148 uncertain significance Cardiovascular phenotype 2023-09-13 criteria provided, single submitter clinical testing The p.N105K variant (also known as c.315C>G), located in coding exon 2 of the BAG3 gene, results from a C to G substitution at nucleotide position 315. The asparagine at codon 105 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.

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