Submissions for variant NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile)

gnomAD frequency: 0.00001  dbSNP: rs535000990

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188080	SCV000241684	uncertain significance	not provided	2015-11-18	criteria provided, single submitter	clinical testing	p.Thr411Ile (ACT>ATT): c.1232 C>T in exon 9 in the MBD5 gene (NM_018328.4).The T411I variant in the MBD5 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The T411I variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T411I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T411I as a variant of uncertain significance. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001493869	SCV001698510	likely benign	Intellectual disability, autosomal dominant 1	2024-11-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000188080	SCV005331323	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MBD5: BS1