ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)

dbSNP: rs1651341099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, Tor Vergata University RCV001200924 SCV001190310 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-02-15 criteria provided, single submitter case-control The variant in LMNA may be associated with cardiovascular pathology (bradycardia and syncopal episodes).
Invitae RCV003117843 SCV003786345 pathogenic Charcot-Marie-Tooth disease type 2 2022-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln184*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 31263448). ClinVar contains an entry for this variant (Variation ID: 932950). For these reasons, this variant has been classified as Pathogenic.

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