Submissions for variant NM_030962.3(SBF2):c.427G>A (p.Val143Met) (rs142469360)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517088	SCV000615013	uncertain significance	not specified	2017-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV000654079	SCV000775969	uncertain significance	Charcot-Marie-Tooth disease type 4	2017-10-24	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 143 of the SBF2 protein (p.Val143Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs142469360, ExAC 0.04%). This variant has not been reported in the literature in individuals with SBF2-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: "Deleterious"; PolyPhen-2: "Probably 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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