Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173203 | SCV000224297 | uncertain significance | not provided | 2015-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000173203 | SCV002261009 | uncertain significance | not provided | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 10 of the WDR62 protein (p.Ala10Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs774912957, ExAC 0.1%). This variant has been observed in individual(s) with WDR62-related conditions (PMID: 27852057). ClinVar contains an entry for this variant (Variation ID: 193156). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. |