Submissions for variant NM_004830.4(MED23):c.4080G>T (p.Val1360=)

gnomAD frequency: 0.00372  dbSNP: rs138742804

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000498630	SCV000589897	benign	not provided	2022-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314854	SCV000849412	uncertain significance	Inborn genetic diseases	2020-03-18	criteria provided, single submitter	clinical testing	The c.4095+3G>T intronic variant results from a G to T substitution 3 nucleotides after coding exon 30 in the MED23 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV000764639	SCV000895747	uncertain significance	Intellectual disability, autosomal recessive 18	2018-10-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915352	SCV004729847	likely benign	MED23-related disorder	2019-03-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).