ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.937-7C>A

dbSNP: rs267607681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367857 SCV001564225 likely benign Charcot-Marie-Tooth disease type 2 2024-05-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820069 SCV002068284 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV005401831 SCV006062337 uncertain significance Cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -7 position of intron 5 of the LMNA gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has been identified in 1/246476 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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