ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) (rs749378136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168118 SCV000218774 uncertain significance Charcot-Marie-Tooth disease type 4 2019-03-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 234 of the SBF2 protein (p.Leu234Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs749378136, ExAC 0.002%) but has not been reported in the literature in individuals with a SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 188199). 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, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this sequence change causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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