Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000798192 | SCV000937794 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FAM175A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with glutamine at codon 315 of the FAM175A protein (p.His315Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. |
| Ambry Genetics | RCV004027946 | SCV002756105 | uncertain significance | not specified | 2022-08-28 | criteria provided, single submitter | clinical testing | The p.H315Q variant (also known as c.945C>G), located in coding exon 9 of the FAM175A gene, results from a C to G substitution at nucleotide position 945. The histidine at codon 315 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |