ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002508658 SCV002817904 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV002569417 SCV003016033 uncertain significance Transposition of the great arteries, dextro-looped 2022-10-17 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 expected to disrupt MED13L protein function. This variant has not been reported in the literature in individuals affected with MED13L-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1868 of the MED13L protein (p.Lys1868Thr).
Ambry Genetics RCV003365737 SCV004083268 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.5603A>C (p.K1868T) alteration is located in exon 25 (coding exon 25) of the MED13L gene. This alteration results from a A to C substitution at nucleotide position 5603, causing the lysine (K) at amino acid position 1868 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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