Submissions for variant NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)

gnomAD frequency: 0.00005  dbSNP: rs370985388

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000488186	SCV000574895	uncertain significance	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV000811896	SCV000952186	likely benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2023-12-14	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173335	SCV001336423	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438190	SCV002749509	uncertain significance	Inborn genetic diseases	2022-08-18	criteria provided, single submitter	clinical testing	The p.K957E variant (also known as c.2869A>G), located in coding exon 15 of the IGHMBP2 gene, results from an A to G substitution at nucleotide position 2869. The lysine at codon 957 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.