ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.547C>T (p.Leu183Phe)

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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 RCV005073060 SCV005703651 uncertain significance Charcot-Marie-Tooth disease type 2 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 183 of the LMNA protein (p.Leu183Phe). This variant is present in population databases (rs574749413, gnomAD 0.003%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 28790152). 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%. 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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