ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)

dbSNP: rs1553265733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592581 SCV000704258 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000696116 SCV000824664 likely pathogenic Charcot-Marie-Tooth disease type 2 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 372 of the LMNA protein (p.Glu372Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a clinical presentation consistent with a laminopathy (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 498978). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV000592581 SCV003814739 uncertain significance not provided 2019-03-14 criteria provided, single submitter clinical testing

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