Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630875 | SCV000751846 | uncertain significance | Fanconi anemia | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 439 of the FANCA protein (p.Leu439Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 526354). 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"). 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 | RCV002533173 | SCV003655914 | uncertain significance | Inborn genetic diseases | 2022-11-08 | criteria provided, single submitter | clinical testing | The c.1315C>A (p.L439M) alteration is located in exon 14 (coding exon 14) of the FANCA gene. This alteration results from a C to A substitution at nucleotide position 1315, causing the leucine (L) at amino acid position 439 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001274154 | SCV001457958 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |