ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)

gnomAD frequency: 0.00001  dbSNP: rs771996062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142612 SCV003814624 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2020-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003142612 SCV004263972 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2024-07-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 257 of the LIMS2 protein (p.Arg257Gln). This variant is present in population databases (rs771996062, gnomAD 0.01%). 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: 2433441). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LIMS2 protein function with a negative predictive value of 80%. 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.

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