ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2318del (p.Ser773fs)

dbSNP: rs1879044510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV001290361 SCV001478246 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2020-10-14 criteria provided, single submitter clinical testing CNVs (Copy Number Variations), SNVs (Single Nucleotide Variations) and indels involving the MED13L gene (mediator complex subunit 13 like - OMIM*608771) can lead to an autosomal dominant clinical condition (Mental retardation and distinctive facial features with or without cardiac defects; MRFACD OMIM#616789) characterized by intellectual disability (ID) associated with facial dysmorphisms in which heart defects have incomplete penetrance (Cafiero et al., 2015; Asadollahi et al., 2017). ACMG rules for our patient: PVS1, PS2, and PM2. 2

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