ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)

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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 RCV003134064 SCV003814637 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003134064 SCV005744889 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 36 of the LIMS2 protein (p.Val36Met). This variant is present in population databases (rs200688714, gnomAD 0.02%). 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: 2433449). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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