ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.82C>G (p.Arg28Gly)

dbSNP: rs886041270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000354047 SCV000329602 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing The R28G variant in the ACTB gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R28G is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Baylor Genetics RCV000850524 SCV000992730 likely pathogenic Baraitser-Winter syndrome 1 2017-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533044 SCV001748864 likely pathogenic ACTB-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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