ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002865029 SCV003627417 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.5005G>A (p.D1669N) alteration is located in exon 22 (coding exon 22) of the MED13L gene. This alteration results from a G to A substitution at nucleotide position 5005, causing the aspartic acid (D) at amino acid position 1669 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV003319545 SCV004023323 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome no assertion criteria provided clinical testing

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