Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001551344 | SCV001771828 | likely pathogenic | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26940150, 31589614, 34193099, 25533962) |
Invitae | RCV000239469 | SCV002289016 | uncertain significance | Ehlers-Danlos syndrome progeroid type | 2022-06-23 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 214 of the B4GALT7 protein (p.Cys214Tyr). This variant is present in population databases (rs753594601, gnomAD 0.007%). This missense change has been observed in individuals with clinical features of B4GALT7-associated Ehlers-Danlos syndrome (PMID: 26940150, 34193099). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 253110). 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. |
OMIM | RCV000239469 | SCV000297908 | pathogenic | Ehlers-Danlos syndrome progeroid type | 2017-12-22 | no assertion criteria provided | literature only |