ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) (rs28928902)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000057293 SCV000703324 uncertain significance not provided 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV001246687 SCV001420062 uncertain significance Charcot-Marie-Tooth disease, type 2 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 471 of the LMNA protein (p.Arg471Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs28928902, ExAC 0.005%). This variant has been observed in individual(s) with clinical features of autosomal recessive Hutchinson-Gilford progeria syndrome (PMID: 12768443, 18348272). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 29943882). This variant is also known as c.1623C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 14503). This variant has been reported to affect LMNA protein function (PMID: 16772334, 25982065, 30137533, 30901896). 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.
OMIM RCV000015597 SCV000035862 pathogenic Mandibuloacral dysplasia with type A lipodystrophy, atypical 2008-04-15 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057293 SCV000088406 not provided not provided no assertion provided not provided
GeneReviews RCV000192239 SCV000239887 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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