ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val)

dbSNP: rs1200220600
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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 RCV001979878 SCV002221265 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-08-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1447544). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 195 of the LIMS2 protein (p.Leu195Val).

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