ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.533G>A (p.Arg178His)

gnomAD frequency: 0.00010  dbSNP: rs144584729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690274 SCV000817955 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 200 of the LIMS2 protein (p.Arg200His). This variant is present in population databases (rs144584729, gnomAD 0.01%). 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: 569601). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV004025047 SCV003689352 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.605G>A (p.R202H) alteration is located in exon 6 (coding exon 6) of the LIMS2 gene. This alteration results from a G to A substitution at nucleotide position 605, causing the arginine (R) at amino acid position 202 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000690274 SCV003814663 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2020-12-03 criteria provided, single submitter clinical testing

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