ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.122G>A (p.Arg41His)

dbSNP: rs1060502215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457713 SCV000548863 pathogenic Charcot-Marie-Tooth disease type 2 2023-03-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 41 of the LMNA protein (p.Arg41His). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg41 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been observed in individuals with LMNA-related conditions (PMID: 20980393, 29250285), which suggests that this may be a clinically significant amino acid residue. 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: 408994). This missense change has been observed in individual(s) with myopathy (Invitae). In at least one individual the variant was observed to be de novo.
CeGaT Center for Human Genetics Tuebingen RCV000994129 SCV001147454 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing

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