Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248146 | SCV001421614 | uncertain significance | Brown-Vialetto-van Laere syndrome 1 | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 398 of the SLC52A3 protein (p.Leu398Phe). This variant is present in population databases (rs774461829, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SLC52A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 972174). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ambry Genetics | RCV002570370 | SCV003572950 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.1192C>T (p.L398F) alteration is located in exon 4 (coding exon 3) of the SLC52A3 gene. This alteration results from a C to T substitution at nucleotide position 1192, causing the leucine (L) at amino acid position 398 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003405454 | SCV004113446 | uncertain significance | SLC52A3-related condition | 2023-01-24 | criteria provided, single submitter | clinical testing | The SLC52A3 c.1192C>T variant is predicted to result in the amino acid substitution p.Leu398Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-742350-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |