ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)

dbSNP: rs1592940794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824866 SCV000965769 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2016-01-04 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000824866 SCV002058805 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported to be associated with MED13L related disorder (ClinVar ID: VCV000666327, PMID:29511999).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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