ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.982G>A (p.Val328Met)

dbSNP: rs1594771236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hematology laboratory, Robert Debré Hospital RCV000824961 SCV000966137 likely pathogenic Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768546 SCV004632575 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 328 of the ACTN1 protein (p.Val328Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with thrombocytopenia (PMID: 31237726). ClinVar contains an entry for this variant (Variation ID: 666542). 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. 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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