ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5530A>G (p.Thr1844Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005364712 SCV006030544 uncertain significance Inborn genetic diseases 2024-12-12 criteria provided, single submitter clinical testing The c.5530A>G (p.T1844A) alteration is located in exon 24 (coding exon 24) of the MED13L gene. This alteration results from a A to G substitution at nucleotide position 5530, causing the threonine (T) at amino acid position 1844 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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