Submissions for variant NM_001136473.1(LITAF):c.226G>A (p.Val76Met) (rs371334679)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000534683	SCV000638219	uncertain significance	Charcot-Marie-Tooth disease, type 1C	2018-11-28	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 76 of the LITAF protein (p.Val76Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs371334679, ExAC 0.05%). This variant has been reported in an individual who underwent testing for Charcot-Marie-Tooth disease (PMID:25614874). ClinVar contains an entry for this variant (Variation ID: 464048). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000585148	SCV000692838	uncertain significance	not provided	2017-07-01	criteria provided, single submitter	clinical testing