Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000477510 | SCV000541420 | uncertain significance | Werner syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 906 of the WRN protein (p.Ser906Gly). This variant is present in population databases (rs751795043, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with WRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 404000). 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. 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. |
Ambry Genetics | RCV002526382 | SCV003745380 | uncertain significance | Inborn genetic diseases | 2022-08-11 | criteria provided, single submitter | clinical testing | The c.2716A>G (p.S906G) alteration is located in exon 22 (coding exon 21) of the WRN gene. This alteration results from a A to G substitution at nucleotide position 2716, causing the serine (S) at amino acid position 906 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003128800 | SCV003805179 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |