Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009060 | SCV001168870 | likely pathogenic | not provided | 2018-09-20 | criteria provided, single submitter | clinical testing | The c.983_996del14insAGG variant in the LMNA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.983_996del14insAGG variant causes a frameshift starting with codon Alanine 328, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 94 of the new reading frame, denoted p.Ala328GlufsX94. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.983_996del14insAGG variant is not observed in large population cohorts (Lek et al., 2016). Based on the ACMG recommendations, c.983_996del14insAGG is interpreted as an expected pathogenic sequence change. |