ClinVar Miner

Submissions for variant NM_152906.7(TANGO2):c.280del (p.His94fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290394 SCV002581188 likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2021-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774968 SCV004631145 pathogenic not provided 2023-04-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His94Thrfs*3) in the TANGO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TANGO2 are known to be pathogenic (PMID: 26805781, 26805782). This premature translational stop signal has been observed in individual(s) with neurodevelopmental delay (PMID: 31276219). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1710052).
OMIM RCV002290394 SCV003841006 pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2023-01-27 no assertion criteria provided literature only

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