ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)

gnomAD frequency: 0.00004  dbSNP: rs369093987
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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 RCV001932262 SCV002126098 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2023-05-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1362387). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 29 of the LIMS2 protein (p.Ser29Leu). This variant is present in population databases (rs369093987, gnomAD 0.006%).
Revvity Omics, Revvity RCV001932262 SCV003814653 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-04-15 criteria provided, single submitter clinical testing

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