Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063384 | SCV001228226 | uncertain significance | Transposition of the great arteries, dextro-looped | 2022-11-08 | 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: 857663). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is present in population databases (rs140287114, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1636 of the MED13L protein (p.Thr1636Ile). |
| Ambry Genetics | RCV003353141 | SCV004062139 | uncertain significance | Inborn genetic diseases | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.4907C>T (p.T1636I) alteration is located in exon 21 (coding exon 21) of the MED13L gene. This alteration results from a C to T substitution at nucleotide position 4907, causing the threonine (T) at amino acid position 1636 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |