ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.91_93del (p.Glu31del) (rs864309525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809807 SCV000949983 pathogenic Charcot-Marie-Tooth disease, type 2 2018-12-24 criteria provided, single submitter clinical testing This variant, c.91_93delGAG, 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). This variant has been observed to be de novo in individuals affected with Lamin A/C-related congenital muscular dystrophy (PMID: 27876398, 26098624). 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 observed in individuals with LMNA-related conditions (PMID: 22491857, 26098624), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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, LMNA-related 2015-07-01 no assertion criteria provided clinical testing Variant was found to be pathogenic by online software, including MutationTaster and SIFT.

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