ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)

dbSNP: rs1553266048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594075 SCV000701771 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867919 SCV002184933 pathogenic Charcot-Marie-Tooth disease type 2 2022-11-29 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: 497324). This missense change has been observed in individual(s) with clinical features of autosomal dominant LMNA-related muscular dystrophy (PMID: 29893365, 32571898; 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 glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 493 of the LMNA protein (p.Gln493Pro).

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