Submissions for variant NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002285725	SCV002575360	uncertain significance	not provided	2022-03-21	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); Normal stop codon changed to a Lys codon, leading to the addition of 6 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV003097690	SCV002972531	uncertain significance	Intellectual disability, autosomal dominant 1	2022-08-31	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This sequence change disrupts the translational stop signal of the MBD5 mRNA. It is expected to extend the length of the MBD5 protein by 6 additional amino acid residues.