Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762432 | SCV000892748 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000762432 | SCV002072697 | uncertain significance | not provided | 2022-01-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001855954 | SCV002310811 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 12 of the DSE protein (p.Phe12Tyr). This variant is present in population databases (rs142885560, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 624264). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 | RCV002533907 | SCV003629078 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.35T>A (p.F12Y) alteration is located in exon 2 (coding exon 1) of the DSE gene. This alteration results from a T to A substitution at nucleotide position 35, causing the phenylalanine (F) at amino acid position 12 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |