ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.379C>T (p.Leu127=)

dbSNP: rs1428192739
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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 RCV002139919 SCV002455595 likely benign Charcot-Marie-Tooth disease type 2 2022-07-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533135 SCV004359095 uncertain significance Cardiomyopathy 2023-06-13 criteria provided, single submitter clinical testing This variant is located in the LMNA protein. 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 not been identified 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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