Submissions for variant NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) (rs201692151)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000489846	SCV000577545	uncertain significance	not provided	2017-03-21	criteria provided, single submitter	clinical testing	The Q55H variant has been reported previously in the heterozygous state in an individual with CMT2 and spasticity who also had variants in two other genes that may have been responsible for the phenotype; therefore, the authors conclude that Q55H is not pathogenic (Høyer et al., 2014). The Q55H variant is observed in 14/6614 (0.2%) alleles from individuals of Finnish background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q55H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.
Invitae	RCV001083586	SCV000642316	likely benign	Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000489846	SCV001148357	uncertain significance	not provided	2017-01-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173342	SCV001336430	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing