ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu)

dbSNP: rs1878087028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375954 SCV001572942 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2020-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV005369867 SCV006030550 uncertain significance Inborn genetic diseases 2025-02-27 criteria provided, single submitter clinical testing The c.3033C>G (p.D1011E) alteration is located in exon 17 (coding exon 17) of the MED13L gene. This alteration results from a C to G substitution at nucleotide position 3033, causing the aspartic acid (D) at amino acid position 1011 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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