Submissions for variant NM_170707.4(LMNA):c.91_93del (p.Glu31del)

dbSNP: rs864309525

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000809807	SCV000949983	pathogenic	Charcot-Marie-Tooth disease type 2	2021-10-03	criteria provided, single submitter	clinical testing	This variant has been observed in individual(s) with Lamin A/C-related congenital muscular dystrophy (PMID: 26098624, 27876398). In at least one individual the variant was observed to be de novo. This variant, c.91_93del, results in the deletion of 1 amino acid(s) of the LMNA protein (p.Glu31del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). ClinVar contains an entry for this variant (Variation ID: 218376). This variant disrupts the p.Glu31 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22491857, 26098624). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000202605	SCV000257540	likely pathogenic	Congenital muscular dystrophy due to LMNA mutation	2015-07-01	no assertion criteria provided	clinical testing	Variant was found to be pathogenic by online software, including MutationTaster and SIFT.