ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.339T>A (p.Phe113Leu)

dbSNP: rs759878335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995389 SCV002254106 uncertain significance Charcot-Marie-Tooth disease type 2 2021-11-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 tolerated. This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 113 of the LMNA protein (p.Phe113Leu).
CeGaT Center for Human Genetics Tuebingen RCV004598169 SCV005092145 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing LMNA: PM2

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