ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131578 SCV003810917 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-04-12 criteria provided, single submitter clinical testing
Invitae RCV003603148 SCV004512104 uncertain significance Transposition of the great arteries, dextro-looped 2023-08-27 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MED13L protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 2433721). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1578 of the MED13L protein (p.Ser1578Cys).

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