ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) (rs57520892)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700159 SCV000828904 pathogenic Charcot-Marie-Tooth disease, type 2 2018-05-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 527 of the LMNA protein (p.Arg527Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with muscular dystrophies, and to segregate with the disease in affected families (PMID: 10080180, 19084400, 20980393). ClinVar contains an entry for this variant (Variation ID: 14481). Experimental studies have shown that this missense change impairs the function of the LMNA protein (PMID: 16218190, 19933576). The p.Arg527 amino acid residue in LMNA has been determined to be clinically significant (PMID: 12075506, 14627682, 18604166, 25823658, 25324471). This suggests that variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015569 SCV000035834 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2009-01-01 no assertion criteria provided literature only
OMIM RCV000015570 SCV000035835 pathogenic Familial partial lipodystrophy 2 2009-01-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057327 SCV000088440 not provided not provided no assertion provided not provided

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