ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) (rs267607137)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000273297 SCV000329560 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing The R570X variant in the TRAPPC9 gene has been reported previously in the homozygous state in a consanguineous Tunisian family of three siblings with autosomal recessive microcephaly and intellectual disability (Philippe et al., 2009). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay, and in vitro studies revealed undetectable levels of TRAPPC9 protein in skin fibroblasts from a patient with the homozygous R570X variant (Philippe et al., 2009). The R570X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R570X as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000000795 SCV000965775 likely pathogenic Mental retardation, autosomal recessive 13 2016-01-04 criteria provided, single submitter clinical testing
OMIM RCV000000795 SCV000020945 pathogenic Mental retardation, autosomal recessive 13 2009-12-01 no assertion criteria provided literature only

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