Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001119748 | SCV001278187 | uncertain significance | Fanconi anemia complementation group P | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001882389 | SCV002318003 | uncertain significance | Fanconi anemia | 2021-02-17 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with familial breast cancer (PMID: 22401137). ClinVar contains an entry for this variant (Variation ID: 887173). This variant is present in population databases (rs754761366, ExAC 0.009%). This sequence change replaces threonine with methionine at codon 1291 of the SLX4 protein (p.Thr1291Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. |
Fulgent Genetics, |
RCV001119748 | SCV002793217 | uncertain significance | Fanconi anemia complementation group P | 2021-11-08 | criteria provided, single submitter | clinical testing |