Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415859 | SCV000493536 | uncertain significance | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765656 | SCV000896986 | uncertain significance | Charcot-Marie-Tooth disease type 4B3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000415859 | SCV002274496 | uncertain significance | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 869 of the SBF1 protein (p.Val869Met). This variant is present in population databases (rs200365973, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SBF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374671). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SBF1 protein function. 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. |
Ambry Genetics | RCV002521477 | SCV003616420 | uncertain significance | Inborn genetic diseases | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.2605G>A (p.V869M) alteration is located in exon 21 (coding exon 21) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 2605, causing the valine (V) at amino acid position 869 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |