ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)

gnomAD frequency: 0.00001  dbSNP: rs1590103742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821993 SCV000962770 uncertain significance Charcot-Marie-Tooth disease type 4 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1487 of the SBF2 protein (p.Pro1487Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SBF2-related conditions. 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: "Probably 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 RCV001173105 SCV001336181 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803993 SCV002048760 uncertain significance Charcot-Marie-Tooth disease type 4B2 2021-01-12 criteria provided, single submitter clinical testing The SBF2 c.4459C>T; p.Pro1487Ser variant (rs1590103742), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 663998).This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 1487 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.95). Due to limited information, the clinical significance of the p.Pro1487Ser variant is uncertain at this time.

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