Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012954 | SCV001173480 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-10 | criteria provided, single submitter | clinical testing | The c.175_177delGCAinsCCT variant, located in coding exon 2 of the RB1 gene, results from an in-frame deletion of GCA and insertion of CCT at nucleotide positions 175 to 177. This results in the substitution of the alanine residue for a proline residue at codon 59, an amino acid with highly similar properties. This amino acid position is well conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |