ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1480G>T (p.Val494Leu)

gnomAD frequency: 0.00001  dbSNP: rs760277884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359100 SCV000342144 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV000653908 SCV000775798 uncertain significance Charcot-Marie-Tooth disease type 2 2023-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 494 of the LMNA protein (p.Val494Leu). This variant is present in population databases (rs760277884, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 288127). 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 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.
Revvity Omics, Revvity RCV000359100 SCV004236254 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing

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