Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001326465 | SCV001517496 | uncertain significance | Severe myoclonic epilepsy in infancy | 2023-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 6 of the SNX27 protein (p.Gly6Val). 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: 1026063). This variant has not been reported in the literature in individuals affected with SNX27-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV002546185 | SCV003593255 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.17G>T (p.G6V) alteration is located in exon 1 (coding exon 1) of the SNX27 gene. This alteration results from a G to T substitution at nucleotide position 17, causing the glycine (G) at amino acid position 6 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Center for Genomics, |
RCV003227958 | SCV003924161 | uncertain significance | not provided | 2022-01-20 | criteria provided, single submitter | clinical testing | SNX27 NM_030918.5 exon 1 p.Gly6Val (c.17G>T): This variant has not been reported in the literature but is present in 0.007% (3/41446) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-151612218-G-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant is present in ClinVar (Variation ID:1026063). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |