ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) (rs1000091588)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680011 SCV000807449 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with congenital senseory and motor neuropathy, chronic respiratory failure, thrombocytopenia
Invitae RCV001218953 SCV001390864 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2019-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg570*) 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 spinal muscular atrophy with respiratory distress (SMARD) (PMID: 17431882). ClinVar contains an entry for this variant (Variation ID: 561032). 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.
Inherited Neuropathy Consortium RCV000790274 SCV000929677 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
Genesis Genome Database RCV000856973 SCV000999539 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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