Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000403306 | SCV000341850 | uncertain significance | not provided | 2016-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000559183 | SCV000648334 | uncertain significance | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 2019-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 1096 of the ITGA7 protein (p.Thr1096Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200485048, ExAC 0.02%). This variant has not been reported in the literature in individuals with ITGA7-related disease. ClinVar contains an entry for this variant (Variation ID: 287906). 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: "Benign"; 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. |
Mayo Clinic Genetic Testing Laboratories, |
RCV000559183 | SCV000782617 | uncertain significance | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 2017-03-10 | criteria provided, single submitter | clinical testing |