ClinVar Miner

Submissions for variant NC_000001.10:g.(?_156105693)_(156106165_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002044064 SCV002109039 pathogenic Charcot-Marie-Tooth disease type 2 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LMNA protein in which other variant(s) (p.Arg377His) have been determined to be pathogenic (PMID: 10814726, 12673789, 24990833, 26443318, 27220833). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant results in the deletion of part of exons 6-7 (c.942_1322del) of the LMNA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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