ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)

dbSNP: rs2499827148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471774 SCV002766696 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_015335.4(MED13L):c.4694C>T in exon 21 of 31 of the MED13L gene. This substitution is predicted to create a moderate amino acid change from threonine to isoleucine at position 1565 of the protein, NP_056150.1(MED13L):p.(Thr1565Ile). The threonine at this position is not conserved in mammals and birds (100 vertebrates, UCSC), but is located within the MID functional domain. In silico software predictions of the pathogenicity of this variant are conflicting (Polyphen, SIFT, CADD, Mutation Taster). The variant is not present in the gnomAD population database. The variant has been previously reported in a clinical testing setting. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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