ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.11+1332_11+1333dup

dbSNP: rs140836565
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036205 SCV001199556 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp25Cysfs*90) in the LIMS2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LIMS2 cause disease. This variant is present in population databases (rs140836565, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 835345). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001036205 SCV003814655 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2021-07-06 criteria provided, single submitter clinical testing

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