Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000403306 | SCV000341850 | uncertain significance | not provided | 2016-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000559183 | SCV000648334 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1096 of the ITGA7 protein (p.Thr1096Met). This variant is present in population databases (rs200485048, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. 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 Laboratories, |
RCV000559183 | SCV000782617 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2017-03-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000559183 | SCV001524311 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2019-07-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000559183 | SCV003815709 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2022-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165757 | SCV003875905 | uncertain significance | Inborn genetic diseases | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.3287C>T (p.T1096M) alteration is located in exon 25 (coding exon 25) of the ITGA7 gene. This alteration results from a C to T substitution at nucleotide position 3287, causing the threonine (T) at amino acid position 1096 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |