ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.2123dup (p.Asn708fs)

dbSNP: rs747106242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044703 SCV002116251 pathogenic Achondrogenesis, type IA 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1351407). This variant is present in population databases (rs780309004, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Asn708Lysfs*22) in the TRIP11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIP11 are known to be pathogenic (PMID: 20089971, 23956106).

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