ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)

dbSNP: rs2102817088
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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 RCV001949326 SCV002240688 pathogenic Charcot-Marie-Tooth disease type 2 2022-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1457765). This premature translational stop signal has been observed in individual(s) with laminopathy (PMID: 24656463, 29095976, 30078822). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln15*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329).

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