Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019019 | SCV001180324 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-15 | criteria provided, single submitter | clinical testing | The p.V106A variant (also known as c.317T>C), located in coding exon 3 of the FH gene, results from a T to C substitution at nucleotide position 317. The valine at codon 106 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV001766846 | SCV002001009 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001766846 | SCV002178708 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with alanine at codon 106 of the FH protein (p.Val106Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FH-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. |
Baylor Genetics | RCV001832344 | SCV004197319 | uncertain significance | Fumarase deficiency | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832344 | SCV002085879 | uncertain significance | Fumarase deficiency | 2020-10-21 | no assertion criteria provided | clinical testing |