ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1304G>A (p.Arg435His)

gnomAD frequency: 0.00001  dbSNP: rs1263919141
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054840 SCV001219195 likely pathogenic Charcot-Marie-Tooth disease type 2 2022-07-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg435 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 4684700, 19842191, 20662858, 23804595). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 850630). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 435 of the LMNA protein (p.Arg435His).
Revvity Omics, Revvity RCV003130131 SCV003814706 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333129 SCV004040953 uncertain significance Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 2023-05-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003130131 SCV004124990 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing LMNA: PM2
Baylor Genetics RCV003458326 SCV004183489 uncertain significance Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2023-10-30 criteria provided, single submitter clinical testing

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