Submissions for variant NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)

gnomAD frequency: 0.00046  dbSNP: rs181657861

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000390927	SCV000341950	benign	not specified	2016-06-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001718585	SCV000513267	benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31372974, 29653221, 20031928, 26922252, 26136520, 28202949, 31180159, 30076350)
Invitae	RCV000534317	SCV000642360	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001111836	SCV001269438	benign	Autosomal recessive distal spinal muscular atrophy 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001174199	SCV001337325	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450825	SCV002617044	likely benign	Inborn genetic diseases	2020-01-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004549602	SCV004760740	likely benign	IGHMBP2-related disorder	2021-03-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).