ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala)

gnomAD frequency: 0.00001  dbSNP: rs780657499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253158 SCV002523377 uncertain significance See cases 2019-12-10 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3
Invitae RCV003603113 SCV004535833 uncertain significance Transposition of the great arteries, dextro-looped 2023-07-07 criteria provided, single submitter clinical testing 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 not expected to disrupt MED13L protein function. ClinVar contains an entry for this variant (Variation ID: 1690740). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is present in population databases (rs780657499, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1422 of the MED13L protein (p.Val1422Ala).

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