ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) (rs786205453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171170 SCV000221366 likely pathogenic not provided no assertion criteria provided research
GeneDx RCV000171170 SCV000527661 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ACTN2 gene. The I143V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I143V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the I143V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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