ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)

dbSNP: rs1651348222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208397 SCV001379781 likely pathogenic Charcot-Marie-Tooth disease type 2 2019-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 197 of the LMNA protein (p.Leu197Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with LMNA-related conditions (PMID: 29237675, Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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