ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.645C>A (p.Asn215Lys)

dbSNP: rs138078305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801340 SCV000941114 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-10-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs138078305, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 215 of the BAG3 protein (p.Asn215Lys). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 646948). 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.

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