ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)

dbSNP: rs1553261858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626229 SCV000746876 likely pathogenic Congenital muscular dystrophy due to LMNA mutation 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV003581701 SCV004292898 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 20 of the LMNA protein (p.Pro20Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 29237675). ClinVar contains an entry for this variant (Variation ID: 523026). 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%. 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.

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