ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe)

dbSNP: rs267607556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003581576 SCV004292927 uncertain significance Charcot-Marie-Tooth disease type 2 2023-01-03 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects LMNA function (PMID: 18031308). 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. 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: 66866). This missense change has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 18031308). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 591 of the LMNA protein (p.Cys591Phe).
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057358 SCV000088471 not provided not provided no assertion provided not provided

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