ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)

dbSNP: rs372031019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851935 SCV000899319 likely pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222628 SCV002500849 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002533973 SCV003197374 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing 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. 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 ACTN1 protein function. ClinVar contains an entry for this variant (Variation ID: 627175). This missense change has been observed in individual(s) with platelet disorders (PMID: 31064749, 34355501). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 653 of the ACTN1 protein (p.Ile653Met).

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