Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000334681 | SCV000372003 | uncertain significance | Leukocyte adhesion deficiency type II | 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. |
| Ambry Genetics | RCV002522197 | SCV003752968 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.151A>G (p.T51A) alteration is located in exon 1 (coding exon 1) of the SLC35C1 gene. This alteration results from a A to G substitution at nucleotide position 151, causing the threonine (T) at amino acid position 51 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Center for Genomic Medicine, |
RCV000334681 | SCV005375225 | uncertain significance | Leukocyte adhesion deficiency type II | 2024-10-13 | criteria provided, single submitter | clinical testing | This variant (GRCh38; NM_001145266.1:c.112A>G:p.Thr38Ala) results in a missense mutation with the conversion of Threonine (Polar amino acid) to Alanine (Nonpolar amino acid) in the SLC35C1 protein. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. There is insufficient data to determine whether the variant is benign or pathogenic. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. ClinVar contains an entry for this variant (Variation ID:304737) A literature search was performed for the gene and associated variants. Based on this search no publications were found. This variant is therefore classified as variant of unknown clinical significance. |