ClinVar

Description

Although the c.8delC variant in the GPD1L gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Alanine 3, changing it to a Glycine, and creating a premature stop codon at position 4 of the new reading frame, denoted p.Ala3GlyfsX4. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Furthermore, the c.8delC variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, frameshift mutations in the GPD1L gene have not been reported. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.