Submissions for variant NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)

dbSNP: rs1024254683

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002019422	SCV002284465	uncertain significance	Intellectual disability, autosomal dominant 1	2023-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 491 of the MBD5 protein (p.Arg491Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1497390). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MBD5 protein function. 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.
Mendelics	RCV002246647	SCV002518220	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252748	SCV002523730	likely benign	See cases	2020-07-01	criteria provided, single submitter	clinical testing	ACMG classification criteria: PM2, BP1, BP4
CeGaT Center for Human Genetics Tuebingen	RCV003434381	SCV004154070	uncertain significance	not provided	2022-06-01	criteria provided, single submitter	clinical testing	MBD5: PM2