ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)

gnomAD frequency: 0.00001  dbSNP: rs774432060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314528 SCV001505064 uncertain significance Transposition of the great arteries, dextro-looped 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2116 of the MED13L protein (p.Ser2116Leu). This variant is present in population databases (rs774432060, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MED13L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015642). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003132400 SCV003810918 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-03-02 criteria provided, single submitter clinical testing

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