Submissions for variant NM_030962.3(SBF2):c.3865C>T (p.Arg1289Trp) (rs145107442)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000416178	SCV000493157	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV001036094	SCV001199442	uncertain significance	Charcot-Marie-Tooth disease type 4	2019-11-26	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with tryptophan at codon 1289 of the SBF2 protein (p.Arg1289Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs145107442, ExAC 0.01%). This variant has not been reported in the literature in individuals with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 374430). 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: "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.

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