ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser)

dbSNP: rs2499839734
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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 RCV003362273 SCV004079522 uncertain significance Inborn genetic diseases 2023-08-17 criteria provided, single submitter clinical testing The c.4147C>T (p.P1383S) alteration is located in exon 19 (coding exon 19) of the MED13L gene. This alteration results from a C to T substitution at nucleotide position 4147, causing the proline (P) at amino acid position 1383 to be replaced by a serine (S). 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. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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