Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000190718 | SCV000244159 | uncertain significance | Inborn genetic diseases | 2013-04-23 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Invitae | RCV002514087 | SCV003261157 | uncertain significance | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 360 of the FGFR3 protein (p.Glu360Lys). This variant is present in population databases (rs757013992, gnomAD 0.02%). This missense change has been observed in individual(s) with achondroplasia (PMID: 19215249). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 208701). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |