Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817199 | SCV000957747 | uncertain significance | Atypical glycine encephalopathy | 2023-06-28 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 660073). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. This variant is present in population databases (rs201636712, gnomAD 0.06%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 252 of the SLC6A9 protein (p.Ser252Pro). |
Ambry Genetics | RCV002535444 | SCV003698249 | uncertain significance | Inborn genetic diseases | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.754T>C (p.S252P) alteration is located in exon 5 (coding exon 5) of the SLC6A9 gene. This alteration results from a T to C substitution at nucleotide position 754, causing the serine (S) at amino acid position 252 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |