ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) (rs886043774)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000352189 SCV000341949 pathogenic not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001218954 SCV001390865 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys868Serfs*16) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with a second IGHMBP2 variant in an individual affected with Charcot-Marie-Tooth disease (PMID: 28065684). This variant is also known as c.2597_2598delAG in the literature. ClinVar contains an entry for this variant (Variation ID: 287978). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic.
Gene Discovery Core-Manton Center,Boston Children's Hospital RCV001548775 SCV001768741 pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2020-02-14 no assertion criteria provided research This variant is interpreted as Pathogenic for Charcot-Marie-Tooth disease, CMT type 2 and restrictive lung disease; Autosomal Recessive. PVS1- Null variant in a gene where LOF is a known mechanism of disease, PM2- Absent from controls in gnomad, PP3- Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, GERP), PP5- Reputable source recently reports variant as pathogenic, but the evidence is not available to the laboratory to perform an independent evaluation (PMID: 28065684) and 2 previous non-conflicting ClinVar entries.

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