Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757495 | SCV000885743 | uncertain significance | not provided | 2018-05-05 | criteria provided, single submitter | clinical testing | The p.Gly453Ser variant (rs1022821298) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The glycine at position 453 is highly conserved up to C. elegans (Alamut v2.11) and computational analyses of the p.Gly453Ser variant on protein structure and function indicates a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Gly453Ser variant with certainty. |