Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004248635 | SCV003864130 | uncertain significance | not specified | 2023-01-26 | criteria provided, single submitter | clinical testing | The c.140T>A (p.L47H) alteration is located in exon 2 (coding exon 2) of the MRPS2 gene. This alteration results from a T to A substitution at nucleotide position 140, causing the leucine (L) at amino acid position 47 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003689054 | SCV004449945 | likely benign | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003906668 | SCV004718383 | likely benign | MRPS2-related disorder | 2022-12-12 | 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). |