ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1334_1342dup (p.Val445_Glu447dup)

dbSNP: rs1651638404
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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 RCV001038918 SCV001202419 uncertain significance Charcot-Marie-Tooth disease type 2 2019-02-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in an individual affected with congenital muscular dystrophy (PMID: 20980393). This variant is also known as p.E444_D446 duplication in the literature. This variant is not present in population databases (ExAC no frequency). This variant, c.1334_1342dup, results in the insertion of 3 amino acid(s) to the LMNA protein (p.Val445_Glu447dup), but otherwise preserves the integrity of the reading frame.

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