ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) (rs1566430156)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692478 SCV000820303 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln276*) 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 reported in combination with another IGHMBP2 variant in an individual affected with SMA with respiratory distress type 1 (PMID: 28202949). ClinVar contains an entry for this variant (Variation ID: 571351). 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.

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