Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000013768 | SCV001274153 | uncertain significance | Familial renal glucosuria | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001512825 | SCV001720312 | benign | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247333 | SCV002519376 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003914837 | SCV004734676 | likely benign | SLC5A2-related condition | 2021-12-06 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000013768 | SCV000034015 | pathogenic | Familial renal glucosuria | 2004-02-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000013768 | SCV001142463 | uncertain significance | Familial renal glucosuria | 2020-01-06 | no assertion criteria provided | curation | NM_003041.3:c.1961A>G in the SLC5A2 gene has an allele frequency of 0.03 in Ashkenazi Jewish subpopulation in the gnomAD database. Although 10 homozygous occurrences are observed in the gnomAD database, renal glucosuria is not lethal in young age. Therefore we did not count this as a strong benign evidence. One individual with renal glucosuria, was a compound heterozygote for this variant and p.Q167fsX186 mutation (PMID: 14614622). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1; PM3. |