ClinVar

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1682831). This variant is also known as c.191insG (p.Ala67GlyfsX14) and c.166_167insG (p.Ala56Glys*16). This premature translational stop signal has been observed in individuals with autosomal recessive mitochondrial membrane protein-associated neurodegeneration and/or autosomal recessive neurodegeneration with brain iron accumulation (PMID: 23166001, 33688131). 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 sequence change creates a premature translational stop signal (p.Ala67Glyfs*16) in the C19orf12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the C19orf12 protein.