ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1488+5G>C

dbSNP: rs267607543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000015610 SCV000595608 pathogenic Familial partial lipodystrophy, Dunnigan type 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003581575 SCV004292924 uncertain significance Charcot-Marie-Tooth disease type 2 2023-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LMNA cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with partial lipodystrophy (PMID: 16636128, 31194872, 36397776). This variant is also known as IVS8+5G>C. ClinVar contains an entry for this variant (Variation ID: 66833). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects LMNA function (PMID: 16636128). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in intronic inclusion and introduces a premature termination codon (PMID: 16636128). The resulting mRNA is expected to undergo nonsense-mediated decay. 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 RCV000015610 SCV000035875 pathogenic Familial partial lipodystrophy, Dunnigan type 2006-07-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057307 SCV000088420 not provided not provided no assertion provided not provided

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