ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)

gnomAD frequency: 0.00001  dbSNP: rs146064484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692477 SCV000820302 uncertain significance Charcot-Marie-Tooth disease type 4 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1828 of the SBF2 protein (p.Cys1828Tyr). This variant is present in population databases (rs146064484, gnomAD 0.005%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 571350). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SBF2 protein function with a negative predictive value of 80%. 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
Ambry Genetics RCV002343464 SCV002652684 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.5483G>A (p.C1828Y) alteration is located in exon 40 (coding exon 40) of the SBF2 gene. This alteration results from a G to A substitution at nucleotide position 5483, causing the cysteine (C) at amino acid position 1828 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004820091 SCV005440871 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported previously in an individual with suspected diagnosis of CMT; however, detailed clinical or segregation information was not provided (PMID: 32376792); This variant is associated with the following publications: (PMID: 32376792)

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