Submissions for variant NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)

gnomAD frequency: 0.00157  dbSNP: rs2228208

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248917	SCV000308726	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001705362	SCV000527290	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
Invitae	RCV000873173	SCV001015117	likely 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	RCV001112494	SCV001270157	likely benign	Autosomal recessive distal spinal muscular atrophy 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172575	SCV001335638	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001705362	SCV002541162	uncertain significance	not provided	2022-09-14	criteria provided, single submitter	clinical testing	BS1
Ambry Genetics	RCV002429187	SCV002742495	likely benign	Inborn genetic diseases	2019-10-31	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.