ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)

dbSNP: rs1682159709
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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 RCV001036482 SCV001199849 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-11-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 835569). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 336 of the LIMS2 protein (p.Leu336Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. 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. 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 RCV001036482 SCV003814648 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2020-07-08 criteria provided, single submitter clinical testing

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