ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)

dbSNP: rs2102817550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733771 SCV001984674 uncertain significance not specified 2020-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861044 SCV002246963 likely pathogenic Charcot-Marie-Tooth disease type 2 2022-11-29 criteria provided, single submitter clinical testing This variant disrupts the p.Leu38 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 expected to disrupt LMNA protein function. ClinVar contains an entry for this variant (Variation ID: 1301822). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 38 of the LMNA protein (p.Leu38Phe). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
School of Medicine, Universitat de Girona RCV003136132 SCV003804972 uncertain significance Congenital muscular dystrophy due to LMNA mutation no assertion criteria provided research

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