ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter)

dbSNP: rs368451336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317914 SCV001508594 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-06-20 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1018587). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. This variant is present in population databases (rs368451336, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Tyr331*) in the LIMS2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the LIMS2 protein.

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