Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223084 | SCV000271486 | uncertain significance | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | The p.Ser62fs variant in ACTC1 has been previously identified by our laboratory in 1 infant with congenital heart defects. This variant was absent from large po pulation studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 62 and leads to a premat ure termination codon 6 amino acids downstream. This alteration is then predicte d to lead to a truncated or absent protein. Although this variant is predicted t o be deleterious to the protein, the variant spectrum of this gene has not been well characterized, and the evidence of disease association for frameshift and o ther loss-of-function variants is limited. In summary, the clinical significance of the p.Ser62fs variant is uncertain. |