ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly)

dbSNP: rs11549225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521309 SCV000621212 likely pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing The A204G variant in the ACTG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A204G variant is not observed in the gnomAD dataset (Lek et al., 2016). The A204G variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A204G as a likely pathogenic variant.
Undiagnosed Diseases Network, NIH RCV001255976 SCV001432753 likely pathogenic Baraitser-winter syndrome 2 2020-07-14 criteria provided, single submitter clinical testing This is a de novo heterozygous missense variant in ACTG1. This variant is absent from internal and external control samples. It is a probably damaging missense variant with a PolyPhen2 score of 0.916. ACTG1 is an intolerant gene with an RVIS score of 2.8. This site is strongly conserved with a GERP++ RS score of 4.56. Note: the patient supporting this variant interpretation is the same patient reported by GeneDx in SCV000621212.2.

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