ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)

dbSNP: rs2499854439
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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 RCV002707814 SCV003555646 uncertain significance Inborn genetic diseases 2021-01-06 criteria provided, single submitter clinical testing The c.3932A>G (p.N1311S) alteration is located in exon 17 (coding exon 17) of the MED13L gene. This alteration results from a A to G substitution at nucleotide position 3932, causing the asparagine (N) at amino acid position 1311 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004725577 SCV005329121 likely benign Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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