ClinVar Miner

Submissions for variant NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)

gnomAD frequency: 0.00002  dbSNP: rs755246924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela 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, LabCorp 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.

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