ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002700027 SCV002990940 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2022-07-13 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224636 SCV003920414 uncertain significance Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant 2021-03-30 criteria provided, single submitter clinical testing ACTN2 NM_001103.3 exon 17 p.Met675Thr (c.2024T>C): This variant has not been reported in the literature and is present in 0.003% (1/31390) of total alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-236918368-T-C). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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