Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003586121 | SCV004294333 | pathogenic | Neu-Laxova syndrome 2 | 2023-03-21 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with phosphoserine aminotransferase deficiency (PMID: 17436247). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PSAT1 function (PMID: 17436247, 32077105). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 1082). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 100 of the PSAT1 protein (p.Asp100Ala). |
OMIM | RCV000001137 | SCV000021287 | pathogenic | PSAT deficiency | 2007-05-01 | no assertion criteria provided | literature only | |
Dudley Research Group, |
RCV001254373 | SCV001430350 | not provided | not provided | no assertion provided | research | ||
Genome Diagnostics Laboratory, |
RCV001254373 | SCV001931628 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001254373 | SCV001973837 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |