Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000196844 | SCV000252557 | uncertain significance | not provided | 2021-09-03 | criteria provided, single submitter | clinical testing | Observed in heterozygous state in an infant with multiple congenital anomalies, bilateral hearing loss, developmental delay, and hypotonia who also had a missense variant in COL6A3 (Valencia et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31264968, 26284228, 27535533, 24464595) |
| Fulgent Genetics, |
RCV000765782 | SCV000897171 | uncertain significance | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2022-02-03 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001157457 | SCV001319032 | uncertain significance | WFS1-Related Spectrum Disorders | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Illumina Laboratory Services, |
RCV001157458 | SCV001319033 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 6 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Labcorp Genetics |
RCV000196844 | SCV002261712 | uncertain significance | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 513 of the WFS1 protein (p.Tyr513Ser). This variant is present in population databases (rs544933961, gnomAD 0.01%). This missense change has been observed in individual(s) with WFS1-related conditions (PMID: 26284228, 31264968). ClinVar contains an entry for this variant (Variation ID: 215412). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WFS1 protein function. 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. |