Submissions for variant NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) (rs746286799)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000535636	SCV000657962	uncertain significance	Charcot-Marie-Tooth disease type 4	2017-12-04	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with valine at codon 1374 of the SBF2 protein (p.Leu1374Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs746286799, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. 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: "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.

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