Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000087314 | SCV000266528 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | criteria provided, single submitter | research | ||
Ambry Genetics | RCV000622339 | SCV000741194 | pathogenic | Inborn genetic diseases | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515781 | SCV003525401 | pathogenic | not provided | 2022-02-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PCYT1A function (PMID: 30559292). 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 expected to disrupt PCYT1A protein function. ClinVar contains an entry for this variant (Variation ID: 101057). This missense change has been observed in individual(s) with spondylometaphyseal dysplasia with cone-rod dystrophy (PMID: 24387990). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs587777189, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 99 of the PCYT1A protein (p.Ala99Val). |
OMIM | RCV000087314 | SCV000120194 | pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2014-01-02 | no assertion criteria provided | literature only |