ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)

dbSNP: rs2527936480
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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 RCV003061524 SCV003459824 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. This missense change has been observed in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 30107846). 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 lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 144 of the LMNA protein (p.Lys144Thr).

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