Submissions for variant NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)

gnomAD frequency: 0.00187  dbSNP: rs35193202

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726894	SCV000278982	likely benign	not provided	2021-09-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26467025, 26392352)
Illumina Laboratory Services, Illumina	RCV000407593	SCV000373776	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.
Invitae	RCV001079219	SCV000642299	benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726894	SCV000703937	uncertain significance	not provided	2017-09-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000726894	SCV000885603	likely benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726894	SCV001148362	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	IGHMBP2: BS2
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173579	SCV001336678	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338693	SCV002644671	likely benign	Inborn genetic diseases	2019-09-23	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	RCV004547564	SCV004768134	likely benign	IGHMBP2-related disorder	2020-01-31	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).
Clinical Genetics, Academic Medical Center	RCV000726894	SCV001925652	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726894	SCV001971460	uncertain significance	not provided		no assertion criteria provided	clinical testing