Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330264 | SCV001521895 | uncertain significance | Neu-Laxova syndrome 1 | 2020-02-04 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002546380 | SCV003248277 | uncertain significance | PHGDH deficiency | 2022-04-16 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 304 of the PHGDH protein (p.Val304Met). This variant is present in population databases (rs149175408, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029063). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV001330264 | SCV004049097 | uncertain significance | Neu-Laxova syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002546380 | SCV004049098 | uncertain significance | PHGDH deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |