Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000950139 | SCV001096424 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000002484 | SCV001137012 | uncertain significance | Hyperglycinuria | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000950139 | SCV004157431 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SLC36A2: BS1, BS2 |
OMIM | RCV003159070 | SCV000022641 | affects | Iminoglycinuria | 2008-12-01 | no assertion criteria provided | literature only | |
OMIM | RCV000002484 | SCV000022642 | affects | Hyperglycinuria | 2008-12-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000002484 | SCV001142350 | benign | Hyperglycinuria | 2020-01-06 | no assertion criteria provided | curation | NM_181776.2:c.260G>T in the SLC36A2 gene has an allele frequency of 0.041 in Ashkenazi Jewish subpopulation in the gnomAD database, including 24 homozygous occurrences. Broer et al. reported this variant in a patient with iminoglycinuria . However, iminoglycinuria was only observed when homozygous SLC36A2 G87V was combined with SLC6A20 T199M (PMID: 19033659). Pathogenic computational verdict because pathogenic predictions from DANN, EIGEN, FATHMM-MKL, MutationAssessor, MutationTaster, PrimateAI and SIFT. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1; BS2; PP3. |