ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.356+3_356+6del

dbSNP: rs1649747081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229061 SCV001401493 uncertain significance Charcot-Marie-Tooth disease type 2 2024-12-18 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with arrhythmogenic cardiomyopathy (internal data). ClinVar contains an entry for this variant (Variation ID: 956287). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
GeneDx RCV002265012 SCV002547126 likely pathogenic not provided 2024-09-06 criteria provided, single submitter clinical testing Intronic variant directly or indirectly altering the +5 splice site in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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