Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801679 | SCV000941468 | uncertain significance | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2018-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 201 of the ITGA7 protein (p.Thr201Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ITGA7-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV002537138 | SCV003659893 | uncertain significance | Inborn genetic diseases | 2022-11-07 | criteria provided, single submitter | clinical testing | The c.601A>G (p.T201A) alteration is located in exon 4 (coding exon 4) of the ITGA7 gene. This alteration results from a A to G substitution at nucleotide position 601, causing the threonine (T) at amino acid position 201 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |