ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)

gnomAD frequency: 0.00004  dbSNP: rs546485749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805018 SCV000944960 uncertain significance Charcot-Marie-Tooth disease type 4 2022-02-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 520 of the SBF2 protein (p.Arg520Gln). This variant is present in population databases (rs546485749, gnomAD 0.04%). This missense change has been observed in individual(s) with suspected Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 649958). 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: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV001172795 SCV001335864 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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