ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.10G>A (p.Ala4Thr)

dbSNP: rs1424018799
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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 RCV004421780 SCV004905322 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.10G>A (p.A4T) alteration is located in exon 1 (coding exon 1) of the MED13L gene. This alteration results from a G to A substitution at nucleotide position 10, causing the alanine (A) at amino acid position 4 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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