ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)

gnomAD frequency: 0.00031  dbSNP: rs146422285
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652651 SCV000774522 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 275 of the LIMS2 protein (p.Gln275Arg). This variant is present in population databases (rs146422285, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. 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: 542251). 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 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.
CeGaT Center for Human Genetics Tuebingen RCV000997203 SCV001152403 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000652651 SCV001711957 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2021-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025878 SCV003691357 uncertain significance not specified 2021-08-12 criteria provided, single submitter clinical testing The c.824A>G (p.Q275R) alteration is located in exon 7 (coding exon 7) of the LIMS2 gene. This alteration results from a A to G substitution at nucleotide position 824, causing the glutamine (Q) at amino acid position 275 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000652651 SCV003814642 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-08-01 criteria provided, single submitter clinical testing

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