ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.302G>A (p.Arg101His)

dbSNP: rs267607568
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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) RCV000297359 SCV000344997 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
Invitae RCV001859718 SCV002208172 uncertain significance Charcot-Marie-Tooth disease type 2 2021-08-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 101 of the LMNA protein (p.Arg101His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 290438). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Color Diagnostics, LLC DBA Color Health RCV003532079 SCV004359089 uncertain significance Cardiomyopathy 2022-10-10 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 101 of the lamin A/C protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/244382 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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