Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514694 | SCV000609544 | uncertain significance | not provided | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084562 | SCV001014998 | likely benign | SLC35A1-congenital disorder of glycosylation | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514694 | SCV001747474 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SLC35A1: BS2 |
Gene |
RCV000514694 | SCV001781556 | likely benign | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358153 | SCV001553816 | benign | not specified | no assertion criteria provided | clinical testing | The SLC35A1 p.Thr45Ala variant was not identified in the literature but was identified in dbSNP (ID: rs145006535), LOVD 3.0 and ClinVar (classified as uncertain significance by Illumina and Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, and as likely benign by Invitae). The variant was identified in control databases in 785 of 282850 chromosomes (3 homozygous) at a frequency of 0.002775 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: European (non-Finnish) in 542 of 129166 chromosomes (freq: 0.004196), Other in 30 of 7228 chromosomes (freq: 0.004151), European (Finnish) in 104 of 25124 chromosomes (freq: 0.004139), South Asian in 52 of 30612 chromosomes (freq: 0.001699), Latino in 37 of 35440 chromosomes (freq: 0.001044), Ashkenazi Jewish in 9 of 10370 chromosomes (freq: 0.000868) and African in 11 of 24960 chromosomes (freq: 0.000441), but was not observed in the East Asian population. The p.Thr45 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign. | |
Diagnostic Laboratory, |
RCV000514694 | SCV001743398 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000514694 | SCV001974178 | likely benign | not provided | no assertion criteria provided | clinical testing |