Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659077 | SCV000780886 | uncertain significance | not provided | 2018-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001237262 | SCV001410016 | uncertain significance | CHARGE association | 2019-08-26 | criteria provided, single submitter | clinical testing | 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"). This variant has not been reported in the literature in individuals with SEMA3E-related conditions. ClinVar contains an entry for this variant (Variation ID: 547019). This variant is present in population databases (rs746431820, ExAC 0.02%). This sequence change replaces histidine with glutamine at codon 339 of the SEMA3E protein (p.His339Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. 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 | RCV003258916 | SCV003972810 | uncertain significance | Inborn genetic diseases | 2023-04-07 | criteria provided, single submitter | clinical testing | The c.1017T>A (p.H339Q) alteration is located in exon 10 (coding exon 10) of the SEMA3E gene. This alteration results from a T to A substitution at nucleotide position 1017, causing the histidine (H) at amino acid position 339 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |