ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3459del (p.Asn1154fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Stanford Medicine RCV003492903 SCV004232358 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-04-12 criteria provided, single submitter clinical testing The p.Asn1154Metfs*15 variant in the MED13L gene was identified de novo in this individual, but has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Asn1154Metfs*15 variant results in a 1bp deletion, which causes a shift in the protein reading frame, leading to a premature termination codon 15 amino acids downstream. Heterozygous loss of function is an established mechanism of disease for the MED13L gene. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, there is sufficient evidence to classify the p.Asn1154Metfs*15 variant as pathogenic for autosomal dominant MED13L-related intellectual disability based on the information above. [ACMG evidence codes used: PVS1; PS2_moderate; PM2]

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