ClinVar Miner

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

gnomAD frequency: 0.00046  dbSNP: rs181657861
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Total submissions: 7
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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)
Labcorp Genetics (formerly Invitae), Labcorp 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 no assertion criteria provided 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).

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