ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.203A>T (p.Glu68Val)

dbSNP: rs2102818240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919151 SCV002180504 pathogenic Charcot-Marie-Tooth disease type 2 2024-07-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 68 of the LMNA protein (p.Glu68Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with arrhythmogenic cardiomyopathy (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1412639). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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