ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) (rs57207746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201054 SCV000255786 likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2015-06-19 criteria provided, single submitter clinical testing
Invitae RCV001052813 SCV001217041 pathogenic Charcot-Marie-Tooth disease, type 2 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 232 of the LMNA protein (p.Gly232Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with childhood-onset muscular dystrophy (PMID: 29893365, 10939567). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 66925). This variant has been reported to affect LMNA protein function (PMID: 25982065, 23077635, 16772334, 29676528, 29753763). This variant disrupts the p.Gly232 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been observed in individuals with LMNA-related conditions (PMID: 18564364, 24349489), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057445 SCV000088559 not provided not provided no assertion provided not provided

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