ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)

dbSNP: rs1877746863
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046307 SCV001210204 uncertain significance Transposition of the great arteries, dextro-looped 2022-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1369 of the MED13L protein (p.Gly1369Ala). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. 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. 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 expected to disrupt MED13L protein function. ClinVar contains an entry for this variant (Variation ID: 843633).

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