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

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Total submissions: 3

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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	2019-12-14	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001099	SCV001158235	uncertain significance	Charcot-Marie-Tooth disease, type 4B2	2019-05-03	criteria provided, single submitter	clinical testing	The SBF2 c.3433A>G, p.Arg1145Gly variant (rs145647154), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database as uncertain (Variation ID: 448241). This variant is found in the general population with an allele frequency in non-Finnish European populations of 0.04% (47/129,170 alleles) in the Genome Aggregation Database. The arginine at codon 1145 is moderately conserved (Alamut v.2.11) and computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. Thus, based on the available information, the clinical significance of this variant is uncertain.

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