ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser)

dbSNP: rs1877454199
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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 RCV002897131 SCV003649630 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.4867G>T (p.A1623S) alteration is located in exon 21 (coding exon 21) of the MED13L gene. This alteration results from a G to T substitution at nucleotide position 4867, causing the alanine (A) at amino acid position 1623 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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