Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075594 | SCV000106592 | uncertain significance | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Insufficient evidence: elongates protein by 36 amino acids |
Ambry Genetics | RCV002444530 | SCV002734001 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-17 | criteria provided, single submitter | clinical testing | The c.2269T>A variant (also known as p.*757KEXT*36), located in coding exon 19 of the MLH1 gene, results from a T to A substitution at nucleotide position 2269, which is the last nucleotide of the MLH1 gene. The stop codon at position 757 is replaced by Lysine, resulting in an elongation of the protein by 36 amino acids. The exact functional impact of these inserted amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |