ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)

gnomAD frequency: 0.00006  dbSNP: rs147350002
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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 RCV000476682 SCV000541254 uncertain significance Charcot-Marie-Tooth disease type 4 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1330 of the SBF2 protein (p.Val1330Ala). This variant is present in population databases (rs147350002, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 403857). 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.
GeneDx RCV001764364 SCV001999998 uncertain significance not provided 2024-11-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002374737 SCV002625203 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.3989T>C (p.V1330A) alteration is located in exon 30 (coding exon 30) of the SBF2 gene. This alteration results from a T to C substitution at nucleotide position 3989, causing the valine (V) at amino acid position 1330 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV003330684 SCV004037540 not provided Charcot-Marie-Tooth disease type 4B2 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 09-25-2017 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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