ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) (rs145647154)

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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 RCV000517591 SCV000615011 uncertain significance not specified 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000557884 SCV000657955 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1145 of the SBF2 protein (p.Arg1145Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs145647154, ExAC 0.04%). This variant has not been reported in the literature in individuals with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 448241). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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