Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic 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, |
RCV000057293 | SCV000088406 | not provided | not provided | no assertion provided | not provided | ||
Gene |
RCV000192239 | SCV000239887 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only |