Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266947 | SCV001445128 | likely pathogenic | Inborn genetic diseases | 2019-03-11 | criteria provided, single submitter | clinical testing | The alteration is predicted to abolish the native donor splice site: The c.105+2T>G alteration is in intron 2 of the EFTUD2 gene and results from a T to G substitution at nucleotide position 105+2. Alterations that disrupt the canonical splice donor site are typically deleterious in nature (Richards, 2015). The alteration is not observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the EFTUD2 c.105+2T>G alteration was not observed, with coverage at this position. The altered nucleotide is conserved throughout evolution: The c.105+2T nucleotide is conserved in available vertebrate species. The alteration is predicted to affect splicing by in silico models: Based on BDGP and ESEfinder splice site in silico tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Based on the available evidence, this alteration is classified as likely pathogenic. |