ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.461T>G (p.Phe154Cys)

gnomAD frequency: 0.00002  dbSNP: rs781141969
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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 RCV002790768 SCV003031805 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-08-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs781141969, gnomAD 0.001%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 176 of the LIMS2 protein (p.Phe176Cys). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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