ClinVar Miner

Submissions for variant NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)

dbSNP: rs587776749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851802 SCV002118122 pathogenic not provided 2021-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with spondyloepiphyseal dysplasia tarda (PMID: 10431248). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val64Glyfs*24) in the TRAPPC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRAPPC2 are known to be pathogenic (PMID: 11349230).
CeGaT Center for Human Genetics Tuebingen RCV001851802 SCV004010915 pathogenic not provided 2024-12-01 criteria provided, single submitter clinical testing TRAPPC2: PVS1, PM2, PS4:Moderate
OMIM RCV000012264 SCV000032498 pathogenic Spondyloepiphyseal dysplasia tarda 2001-06-01 no assertion criteria provided literature only

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