Submissions for variant NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)

gnomAD frequency: 0.00011  dbSNP: rs199586231

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000295254	SCV000373751	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV001081103	SCV000642292	likely benign	Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000839297	SCV000981192	likely benign	not provided	2019-09-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32376792)
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173561	SCV001336658	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000839297	SCV001716099	uncertain significance	not provided	2019-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392841	SCV002702561	likely benign	Inborn genetic diseases	2023-09-14	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.