Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823983 | SCV000964858 | uncertain significance | Severe myoclonic epilepsy in infancy | 2022-06-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 141 of the SNX27 protein (p.Asp141Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SNX27-related conditions. ClinVar contains an entry for this variant (Variation ID: 665660). 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 | RCV002536007 | SCV003554804 | uncertain significance | Inborn genetic diseases | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.422A>T (p.D141V) alteration is located in exon 2 (coding exon 2) of the SNX27 gene. This alteration results from a A to T substitution at nucleotide position 422, causing the aspartic acid (D) at amino acid position 141 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |