Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818619 | SCV000959241 | uncertain significance | H syndrome | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 90 of the SLC29A3 protein (p.Thr90Ile). This variant is present in population databases (rs138389471, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 661241). 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. 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. |
Ce |
RCV001093314 | SCV001250234 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000818619 | SCV002495961 | uncertain significance | H syndrome | 2021-03-17 | criteria provided, single submitter | clinical testing | SLC29A3 NM_018344.5 exon 2 p.Thr90Ile (c.269C>T): This variant has not been reported in the literature but present in 0.02% (4/15292) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-71323023-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:661241). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |