Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330262 | SCV001521893 | uncertain significance | Neu-Laxova syndrome 1 | 2019-10-12 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002546378 | SCV003263567 | uncertain significance | PHGDH deficiency | 2022-07-22 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 88 of the PHGDH protein (p.Ala88Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1029061). 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: "Probably 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- |
RCV001330262 | SCV004049047 | uncertain significance | Neu-Laxova syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002546378 | SCV004049048 | uncertain significance | PHGDH deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |