Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001038271 | SCV001201735 | uncertain significance | Fanconi anemia | 2023-04-06 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs749696321, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1285 of the FANCM protein (p.His1285Arg). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 837024). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002479246 | SCV002774583 | uncertain significance | not provided | 2021-08-06 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002505560 | SCV002816509 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2022-05-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002551411 | SCV003666622 | uncertain significance | Inborn genetic diseases | 2022-12-15 | criteria provided, single submitter | clinical testing | The c.3854A>G (p.H1285R) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 3854, causing the histidine (H) at amino acid position 1285 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |