Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004369847 | SCV005003522 | uncertain significance | not specified | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.3154G>A (p.E1052K) alteration is located in exon 18 (coding exon 18) of the PER3 gene. This alteration results from a G to A substitution at nucleotide position 3154, causing the glutamic acid (E) at amino acid position 1052 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003959140 | SCV004767331 | likely benign | PER3-related disorder | 2019-11-19 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |