ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)

dbSNP: rs1060502211
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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 RCV000467141 SCV000548847 pathogenic Charcot-Marie-Tooth disease type 2 2019-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 330 (p.Glu330*) of the LMNA gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in LMNA are known to be pathogenic  (PMID: 23183350).

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