Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001336514 | SCV001529916 | uncertain significance | Charcot-Marie-Tooth disease type 4B3 | 2018-06-28 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001508028 | SCV001713924 | uncertain significance | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001508028 | SCV002258305 | uncertain significance | not provided | 2022-06-27 | 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 1612 of the SBF1 protein (p.Val1612Met). This variant is present in population databases (rs370715026, gnomAD 0.009%). 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: 1033958). 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. |
Ambry Genetics | RCV002546781 | SCV003529199 | uncertain significance | Inborn genetic diseases | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.4834G>A (p.V1612M) alteration is located in exon 36 (coding exon 36) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 4834, causing the valine (V) at amino acid position 1612 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |