ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.*57G>A (rs754821950)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698494 SCV000827160 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-05-13 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 140 of the LITAF protein (p.Ala140Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs754821950, ExAC 0.003%). This variant has not been reported in the literature in individuals with LITAF-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996211 SCV001150805 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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