Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680166 | SCV000807640 | uncertain significance | MEGF8-related Carpenter syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 1-year-old male with metopic craniosynostosis, global delays, dysmorphisms, short neck, inverted npples, structural brain anomalies, ptosis, strabismus, rocker bottom feet, adducted thumbs, contractures, cafe au lait macules. Heterozygotes would be expected to be asymptomatic carriers. |
Invitae | RCV000680166 | SCV000812391 | uncertain significance | MEGF8-related Carpenter syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2037 of the MEGF8 protein (p.Ala2037Ser). This variant is present in population databases (rs772768716, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MEGF8-related conditions. ClinVar contains an entry for this variant (Variation ID: 561156). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Gene |
RCV001756146 | SCV001986747 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25326635, 28492532) |