ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1896dup (p.Gly633fs)

dbSNP: rs2528030569
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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 RCV003744376 SCV004430284 uncertain significance Charcot-Marie-Tooth disease type 2 2023-02-08 criteria provided, single submitter clinical testing 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. This variant results in an extension of the LMNA protein. Other variant(s) that result in a similarly extended protein product (p.Thr655Asnfs*49) have been determined to be pathogenic (PMID: 17711925, 25819867). This suggests that these extensions are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the LMNA gene (p.Gly633Trpfs*71). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the LMNA protein and extend the protein by 38 additional amino acid residues.

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