ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe)

dbSNP: rs2499831063
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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 RCV002813485 SCV003606207 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.4495C>T (p.L1499F) alteration is located in exon 20 (coding exon 20) of the MED13L gene. This alteration results from a C to T substitution at nucleotide position 4495, causing the leucine (L) at amino acid position 1499 to be replaced by a phenylalanine (F). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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