ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.1078dup (p.Gln360fs) (rs1562718649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681089 SCV000808543 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing The c.1078dupC variant in the ACTB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1078dupC variant causes a frameshift starting with codon Glutamine 360, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Gln360ProfsX4. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1078dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1078dupC as a pathogenic variant.
Invitae RCV000800009 SCV000939706 uncertain significance Baraitser-Winter syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ACTB gene (p.Gln360Profs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the ACTB protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACTB-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. 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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