Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000522755 | SCV000621273 | likely pathogenic | not provided | 2017-10-13 | criteria provided, single submitter | clinical testing | The c.79dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.79dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.79dupA variant causes a frameshift starting with codon Threonine 27, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Thr27AsnfsX14. This variant is predicted to cause loss of normal protein function through protein truncation. In summary, we interpret this variant as likely pathogenic. |
| Labcorp Genetics |
RCV000522755 | SCV003483722 | uncertain significance | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr27Asnfs*14) in the LIPT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 347 amino acid(s) of the LIPT1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LIPT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 452463). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. |