Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003586120 | SCV004294332 | pathogenic | Neu-Laxova syndrome 2 | 2023-06-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1081). This variant is also known as c.delG107. This premature translational stop signal has been observed in individual(s) with phosphoserine aminotransferase deficiency (PMID: 17436247). This variant is present in population databases (rs774147367, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Gly36Alafs*7) in the PSAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457). |
OMIM | RCV000001136 | SCV000021286 | pathogenic | PSAT deficiency | 2007-05-01 | no assertion criteria provided | literature only | |
Dudley Research Group, |
RCV001254415 | SCV001430392 | not provided | not provided | no assertion provided | research |