ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) (rs146286133)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428487 SCV000520443 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088757 SCV000764353 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-11-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756266 SCV000884024 likely benign not provided 2017-06-30 criteria provided, single submitter clinical testing The c.2691C>T variant (rs146286133) has not been previously associated with any peripheral neuropathy and is listed in the ClinVar database as likely benign (Variation ID: 381270). This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish European populations of 0.017% (identified in 22 out of 126,660 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.9), does not alter the amino acid sequence of IGHMBP2 protein, and is not predicted to alter IGHMBP2 mRNA splicing (Alamut software v 2.9). Therefore, the c.2691C>T variant is likely to be benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172581 SCV001335644 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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