Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189703 | SCV000243350 | pathogenic | not provided | 2014-09-12 | criteria provided, single submitter | clinical testing | c.691_700del10insCTT: p.Val231LeufsX22 (V231LfsX22) in exon 2 of the TBC1D24 gene (NM_020705.2). The normal sequence with the bases that are deleted in braces followed by the inserted bases in brackets is: TGAC[del10]{CTT}TGGA.The c.691_700del10insCTT mutation in the TBC1D24 gene causes a frameshift starting with codon Valine 231, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Val231LeufsX22. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, other truncating mutations have been reported in the TBC1D24 protein, and therefore, c.691_700del10insCTT is considered a disease-causing mutation. The variant is found in INFANT-EPI panel(s). |