Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593789 | SCV000702636 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001113160 | SCV001270910 | uncertain significance | Peters plus syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV001113160 | SCV003241904 | uncertain significance | Peters plus syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 497890). 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. 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. This variant has not been reported in the literature in individuals affected with B3GLCT-related conditions. This variant is present in population databases (rs375667011, gnomAD 0.06%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 61 of the B3GLCT protein (p.Val61Ile). |
Ambry Genetics | RCV004024723 | SCV004913719 | uncertain significance | Inborn genetic diseases | 2022-06-09 | criteria provided, single submitter | clinical testing | The c.181G>A (p.V61I) alteration is located in exon 4 (coding exon 4) of the B3GLCT gene. This alteration results from a G to A substitution at nucleotide position 181, causing the valine (V) at amino acid position 61 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |