ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)

dbSNP: rs57966821
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000057498 SCV000842671 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854179 SCV002172437 pathogenic Charcot-Marie-Tooth disease type 2 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 33 of the LMNA protein (p.Glu33Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant LMNA-related conditions (PMID: 14985400, 22326558; internal data). ClinVar contains an entry for this variant (Variation ID: 66965). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt LMNA protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057498 SCV000088612 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000790002 SCV000929391 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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