Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003068558 | SCV003455555 | uncertain significance | Salla disease | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 473 of the SLC17A5 protein (p.Phe473Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. 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. |
Fulgent Genetics, |
RCV005045227 | SCV005672796 | uncertain significance | Sialic acid storage disease, severe infantile type; Salla disease | 2024-04-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV005281311 | SCV005942109 | uncertain significance | Inborn genetic diseases | 2025-01-07 | criteria provided, single submitter | clinical testing | The c.1419C>G (p.F473L) alteration is located in exon 11 (coding exon 11) of the SLC17A5 gene. This alteration results from a C to G substitution at nucleotide position 1419, causing the phenylalanine (F) at amino acid position 473 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |