ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)

gnomAD frequency: 0.00008  dbSNP: rs200231493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004081240 SCV003530685 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.215G>A (p.R72Q) alteration is located in exon 2 (coding exon 2) of the LIMS2 gene. This alteration results from a G to A substitution at nucleotide position 215, causing the arginine (R) at amino acid position 72 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003134691 SCV003814654 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2023-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003134691 SCV004354232 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-11-10 criteria provided, single submitter clinical testing 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 sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 70 of the LIMS2 protein (p.Arg70Gln). This variant is present in population databases (rs200231493, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LIMS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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