ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) (rs146064484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692477 SCV000820302 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1828 of the SBF2 protein (p.Cys1828Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs146064484, ExAC 0.001%). 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 are either unavailable or 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172808 SCV001335877 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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