ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3278A>G (p.Asn1093Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208352 SCV005849357 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.3278A>G(p.Asn1093Ser) in MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Asn at position 1093 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen-Benign, SIFT-Tolerated and MutationTaster-disease causing) predicts conflicting evidence on protein structure and function for this variant.The reference amino acid p.Asn1093Ser in MED13L is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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