ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)

gnomAD frequency: 0.00001  dbSNP: rs767811228
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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 RCV000691838 SCV000819634 uncertain significance Charcot-Marie-Tooth disease type 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1296 of the SBF2 protein (p.Ser1296Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: "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 RCV001172792 SCV001335861 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001535665 SCV001749720 not provided Charcot-Marie-Tooth disease type 4B2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-23-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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