ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.937-11C>G

dbSNP: rs267607645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854178 SCV002153336 pathogenic Charcot-Marie-Tooth disease type 2 2024-01-08 criteria provided, single submitter clinical testing This sequence change falls in intron 5 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 21462202). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 66957). Studies have shown that this variant results in altered splicing and introduces a premature termination codon (PMID: 21462202). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057486 SCV000088600 not provided not provided no assertion provided not provided

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