ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala)

dbSNP: rs1592924207
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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 RCV002723024 SCV003561178 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.3229A>G (p.T1077A) alteration is located in exon 17 (coding exon 17) of the MED13L gene. This alteration results from a A to G substitution at nucleotide position 3229, causing the threonine (T) at amino acid position 1077 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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