Submissions for variant NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)

dbSNP: rs794728613

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000182396	SCV000234739	pathogenic	not provided	2019-05-07	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28333919)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000182396	SCV001447471	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Invitae	RCV001852314	SCV002232722	pathogenic	Charcot-Marie-Tooth disease type 2	2024-01-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp467*) 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: 28333919). ClinVar contains an entry for this variant (Variation ID: 200965). For these reasons, this variant has been classified as Pathogenic.
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University	RCV001775092	SCV001593113	pathogenic	Dilated cardiomyopathy 1A	2021-04-27	no assertion criteria provided	clinical testing