Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuro |
RCV000585820 | SCV000693788 | likely pathogenic | Pontocerebellar hypoplasia type 2B | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226332 | SCV003923207 | likely pathogenic | Pontoneocerebellar hypoplasia | 2023-03-01 | criteria provided, single submitter | clinical testing | Variant summary: TSEN2 c.353_354delAG (p.Gln118ArgfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. Truncations downstream of this position have been reported in affected individuals (e.g. PMIDs: 23562994, 35266334). The variant allele was found at a frequency of 2.4e-05 in 251208 control chromosomes. To our knowledge, no occurrence of c.353_354delAG in individuals affected with Pontocerebellar Hypoplasia, Type 2B and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |