ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro)

gnomAD frequency: 0.00001  dbSNP: rs1682491108
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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 RCV001948439 SCV002204756 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-11-15 criteria provided, single submitter clinical testing 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt LIMS2 protein function. ClinVar contains an entry for this variant (Variation ID: 1430796). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 202 of the LIMS2 protein (p.Leu202Pro).
Ambry Genetics RCV004935226 SCV005608097 uncertain significance not specified 2024-10-06 criteria provided, single submitter clinical testing The c.611T>C (p.L204P) alteration is located in exon 6 (coding exon 6) of the LIMS2 gene. This alteration results from a T to C substitution at nucleotide position 611, causing the leucine (L) at amino acid position 204 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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