Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709216 | SCV000838645 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000709216 | SCV002642111 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-25 | criteria provided, single submitter | clinical testing | The c.493_497delAGTTC variant, located in coding exon 4 of the RECQL gene, results from a deletion of 5 nucleotides at nucleotide positions 493 to 497, causing a translational frameshift with a predicted alternate stop codon (p.S165*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |