Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155786 | SCV003844838 | pathogenic | Abetalipoproteinaemia | 2023-02-16 | criteria provided, single submitter | clinical testing | Variant summary: MTTP c.2342+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Three predict the variant abolishes the canonical 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (example: Magnolo_2013). The variant allele was found at a frequency of 4e-06 in 251248 control chromosomes (gnomAD). c.2342+1G>A has been reported in at-least one individual affected with hypobetalipoproteinemia, in homozygous state (example: Magnolo_2013). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |