Submissions for variant NM_170707.4(LMNA):c.94_96del (p.Lys32del)

dbSNP: rs60872029

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000057490	SCV000339264	pathogenic	not provided	2016-02-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459386	SCV000548866	pathogenic	Charcot-Marie-Tooth disease type 2	2024-02-11	criteria provided, single submitter	clinical testing	This variant, c.94_96del, results in the deletion of 1 amino acid(s) of the LMNA protein (p.Lys32del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (EDMD), congenital muscular dystrophy, and inflammatory myopathy (PMID: 12467752, 15372542, 17377071, 18551513, 20980393, 21632249, 24806962, 26098624, 27600705). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 66960). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects LMNA function (PMID: 15372542, 21653823, 22090424, 23427149, 24806962). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000015625	SCV005374162	pathogenic	Congenital muscular dystrophy due to LMNA mutation	2024-09-22	criteria provided, single submitter	clinical testing
OMIM	RCV000015625	SCV000035890	pathogenic	Congenital muscular dystrophy due to LMNA mutation	2005-08-01	no assertion criteria provided	literature only
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057490	SCV000088604	not provided	not provided		no assertion provided	not provided