ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)

dbSNP: rs267607597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514281 SCV003523458 pathogenic Charcot-Marie-Tooth disease type 2 2022-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 66810). This missense change has been observed in individual(s) with clinical features of autosomal dominant LMNA-related conditions (PMID: 18551513; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 455 of the LMNA protein (p.Arg455Pro).
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057276 SCV000088389 not provided not provided no assertion provided not provided

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