ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)

gnomAD frequency: 0.00006  dbSNP: rs566463138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000221610 SCV000271911 uncertain significance not specified 2015-05-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Met556Arg var iant in LDB3 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.2% (14/8652) of East Asian chromosomes by the Exo me Aggregation Consortium (ExAC,; dbSNP rs5664631 38). Computational prediction tools and conservation analysis suggest that the p .Met556Arg variant may impact the protein, though this information is not predic tive enough to determine pathogenicity. In summary, while the clinical significa nce of the p.Met556Arg variant is uncertain, its frequency in the general popula tion suggests that it is more likely to be benign.
Invitae RCV000552722 SCV000638661 likely benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV001428629 SCV001631331 likely benign Myofibrillar myopathy 4 2021-12-17 criteria provided, single submitter clinical testing

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