ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)

gnomAD frequency: 0.00002  dbSNP: rs752899664
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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 RCV000802808 SCV000942653 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-02-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 648145). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. This variant is present in population databases (rs752899664, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Tyr58*) 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.
Revvity Omics, Revvity RCV000802808 SCV004236243 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2023-04-05 criteria provided, single submitter clinical testing

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